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nsv2781797

  • Variant Calls:5
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):85,188,152-85,188,152Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):85,188,181-85,188,181Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):85,190,822-85,190,822Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):85,190,825-85,190,825Question Mark
Overlapping variant regions from other studies: 150 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):85,778,573-85,778,573Question Mark
Overlapping variant regions from other studies: 150 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):85,778,573-85,778,573Question Mark
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):93,200,275-93,200,275Question Mark
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):93,200,275-93,200,275Question Mark
Overlapping variant regions from other studies: 233 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):80,085,471-80,085,471Question Mark
Overlapping variant regions from other studies: 233 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):80,085,474-80,085,474Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Submitted genomic85,897,870-85,897,870Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Submitted genomic85,897,899-85,897,899Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Submitted genomic85,900,540-85,900,540Question Mark
Overlapping variant regions from other studies: 118 SVs from 20 studies. See in: genome view    
Submitted genomic85,900,543-85,900,543Question Mark
Overlapping variant regions from other studies: 150 SVs from 29 studies. See in: genome view    
Submitted genomic86,488,291-86,488,291Question Mark
Overlapping variant regions from other studies: 150 SVs from 29 studies. See in: genome view    
Submitted genomic86,488,291-86,488,291Question Mark
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view    
Submitted genomic93,909,993-93,909,993Question Mark
Overlapping variant regions from other studies: 118 SVs from 28 studies. See in: genome view    
Submitted genomic93,909,993-93,909,993Question Mark
Overlapping variant regions from other studies: 233 SVs from 23 studies. See in: genome view    
Submitted genomic80,659,606-80,659,606Question Mark
Overlapping variant regions from other studies: 233 SVs from 23 studies. See in: genome view    
Submitted genomic80,659,609-80,659,609Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,188,15285,188,152+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,188,18185,188,181-
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,190,82285,190,822-
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,190,82585,190,825+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,778,57385,778,573+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,778,57385,778,573+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr693,200,27593,200,275+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr693,200,27593,200,275+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1380,085,47180,085,471+
nsv2781797RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1380,085,47480,085,474+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr685,897,87085,897,870+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr685,897,89985,897,899-
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr685,900,54085,900,540-
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr685,900,54385,900,543+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr686,488,29186,488,291+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr686,488,29186,488,291+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr693,909,99393,909,993+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr693,909,99393,909,993+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1380,659,60680,659,606+
nsv2781797Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1380,659,60980,659,609+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13660013interchromosomal translocationDGAP187SequencingSplit read and paired-end mappingSCV0003208175
nssv13660016intrachromosomal translocationDGAP187SequencingSplit read and paired-end mappingSCV0003208175
nssv13660015intrachromosomal translocationDGAP187SequencingSplit read and paired-end mappingSCV0003208175
nssv13660014interchromosomal translocationDGAP187SequencingSplit read and paired-end mappingSCV0003208175
nssv13660017copy number lossDGAP187SequencingSplit read and paired-end mappingSCV0003208175

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13660013RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,188,15285,188,152+
nssv13660016RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,188,18185,188,181-
nssv13660015RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,190,82285,190,822-
nssv13660014RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,190,82585,190,825+
nssv13660015RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,778,57385,778,573+
nssv13660017RemappedPerfectNC_000006.12:g.857
78573delNC_000006.
12:g.93200275del		GRCh38.p12First PassNC_000006.12Chr685,778,57385,778,573
nssv13660016RemappedPerfectGRCh38.p12First PassNC_000006.12Chr693,200,27593,200,275+
nssv13660017RemappedPerfectNC_000006.12:g.857
78573delNC_000006.
12:g.93200275del		GRCh38.p12First PassNC_000006.12Chr693,200,27593,200,275
nssv13660014RemappedPerfectGRCh38.p12First PassNC_000013.11Chr1380,085,47180,085,471+
nssv13660013RemappedPerfectGRCh38.p12First PassNC_000013.11Chr1380,085,47480,085,474+
nssv13660013Submitted genomicGRCh37 (hg19)NC_000006.11Chr685,897,87085,897,870+
nssv13660016Submitted genomicGRCh37 (hg19)NC_000006.11Chr685,897,89985,897,899-
nssv13660015Submitted genomicGRCh37 (hg19)NC_000006.11Chr685,900,54085,900,540-
nssv13660014Submitted genomicGRCh37 (hg19)NC_000006.11Chr685,900,54385,900,543+
nssv13660015Submitted genomicGRCh37 (hg19)NC_000006.11Chr686,488,29186,488,291+
nssv13660017Submitted genomic[NC_000006.11:g.86
488291del];[NC_000
006.11:g.93909993d
el]		GRCh37 (hg19)NC_000006.11Chr686,488,29186,488,291
nssv13660016Submitted genomicGRCh37 (hg19)NC_000006.11Chr693,909,99393,909,993+
nssv13660017Submitted genomic[NC_000006.11:g.86
488291del];[NC_000
006.11:g.93909993d
el]		GRCh37 (hg19)NC_000006.11Chr693,909,99393,909,993
nssv13660014Submitted genomicGRCh37 (hg19)NC_000013.10Chr1380,659,60680,659,606+
nssv13660013Submitted genomicGRCh37 (hg19)NC_000013.10Chr1380,659,60980,659,609+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13660013DGAP187interchromosomal translocationSCV000320817Female5
nssv13660016DGAP187intrachromosomal translocationSCV000320817Female5
nssv13660015DGAP187intrachromosomal translocationSCV000320817Female5
nssv13660014DGAP187interchromosomal translocationSCV000320817Female5
nssv13660017DGAP187GRCh37: [NC_000006.11:g.86488291del];[NC_000006.11:g.93909993del]copy number lossSCV000320817Female5

No genotype data were submitted for this variant

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