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nsv2781972

  • Variant Calls:4
  • 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: 137 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):48,489,716-48,489,716Question Mark
Overlapping variant regions from other studies: 137 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):48,489,724-48,489,724Question Mark
Overlapping variant regions from other studies: 369 SVs from 37 studies. See in: genome view    
Remapped(Score: Perfect):50,918,204-50,918,204Question Mark
Overlapping variant regions from other studies: 369 SVs from 37 studies. See in: genome view    
Remapped(Score: Perfect):50,918,205-50,918,205Question Mark
Overlapping variant regions from other studies: 133 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):59,862,801-59,862,801Question Mark
Overlapping variant regions from other studies: 133 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):59,862,802-59,862,802Question Mark
Overlapping variant regions from other studies: 114 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):63,881,919-63,881,919Question Mark
Overlapping variant regions from other studies: 114 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):63,881,920-63,881,920Question Mark
Overlapping variant regions from other studies: 137 SVs from 25 studies. See in: genome view    
Submitted genomic48,716,855-48,716,855Question Mark
Overlapping variant regions from other studies: 137 SVs from 25 studies. See in: genome view    
Submitted genomic48,716,863-48,716,863Question Mark
Overlapping variant regions from other studies: 369 SVs from 37 studies. See in: genome view    
Submitted genomic51,145,342-51,145,342Question Mark
Overlapping variant regions from other studies: 369 SVs from 37 studies. See in: genome view    
Submitted genomic51,145,343-51,145,343Question Mark
Overlapping variant regions from other studies: 133 SVs from 23 studies. See in: genome view    
Submitted genomic60,089,936-60,089,936Question Mark
Overlapping variant regions from other studies: 133 SVs from 23 studies. See in: genome view    
Submitted genomic60,089,937-60,089,937Question Mark
Overlapping variant regions from other studies: 114 SVs from 22 studies. See in: genome view    
Submitted genomic63,915,823-63,915,823Question Mark
Overlapping variant regions from other studies: 114 SVs from 22 studies. See in: genome view    
Submitted genomic63,915,824-63,915,824Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr248,489,71648,489,716+
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr248,489,72448,489,724-
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr250,918,20450,918,204+
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr250,918,20550,918,205-
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr259,862,80159,862,801+
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr259,862,80259,862,802+
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1663,881,91963,881,919+
nsv2781972RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1663,881,92063,881,920+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr248,716,85548,716,855+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr248,716,86348,716,863-
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr251,145,34251,145,342+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr251,145,34351,145,343-
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr260,089,93660,089,936+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr260,089,93760,089,937+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1663,915,82363,915,823+
nsv2781972Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1663,915,82463,915,824+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659828intrachromosomal translocationDGAP124SequencingSplit read and paired-end mappingSCV000320774nssv13659832, nssv13659831, nssv13659829
nssv13659829intrachromosomal translocationDGAP124SequencingSplit read and paired-end mappingSCV000320774nssv13659832, nssv13659831, nssv13659828
nssv13659831interchromosomal translocationDGAP124SequencingSplit read and paired-end mappingSCV000320774nssv13659832, nssv13659829, nssv13659828
nssv13659832interchromosomal translocationDGAP124SequencingSplit read and paired-end mappingSCV000320774nssv13659831, nssv13659829, nssv13659828

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659828RemappedPerfectGRCh38.p12First PassNC_000002.12Chr248,489,71648,489,716+
nssv13659829RemappedPerfectGRCh38.p12First PassNC_000002.12Chr248,489,72448,489,724-
nssv13659831RemappedPerfectGRCh38.p12First PassNC_000002.12Chr250,918,20450,918,204+
nssv13659828RemappedPerfectGRCh38.p12First PassNC_000002.12Chr250,918,20550,918,205-
nssv13659832RemappedPerfectGRCh38.p12First PassNC_000002.12Chr259,862,80159,862,801+
nssv13659829RemappedPerfectGRCh38.p12First PassNC_000002.12Chr259,862,80259,862,802+
nssv13659831RemappedPerfectGRCh38.p12First PassNC_000016.10Chr1663,881,91963,881,919+
nssv13659832RemappedPerfectGRCh38.p12First PassNC_000016.10Chr1663,881,92063,881,920+
nssv13659828Submitted genomicGRCh37 (hg19)NC_000002.11Chr248,716,85548,716,855+
nssv13659829Submitted genomicGRCh37 (hg19)NC_000002.11Chr248,716,86348,716,863-
nssv13659831Submitted genomicGRCh37 (hg19)NC_000002.11Chr251,145,34251,145,342+
nssv13659828Submitted genomicGRCh37 (hg19)NC_000002.11Chr251,145,34351,145,343-
nssv13659832Submitted genomicGRCh37 (hg19)NC_000002.11Chr260,089,93660,089,936+
nssv13659829Submitted genomicGRCh37 (hg19)NC_000002.11Chr260,089,93760,089,937+
nssv13659831Submitted genomicGRCh37 (hg19)NC_000016.9Chr1663,915,82363,915,823+
nssv13659832Submitted genomicGRCh37 (hg19)NC_000016.9Chr1663,915,82463,915,824+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659828DGAP124intrachromosomal translocationSCV000320774Malenssv13659832, nssv13659831, nssv13659829
nssv13659829DGAP124intrachromosomal translocationSCV000320774Malenssv13659832, nssv13659831, nssv13659828
nssv13659831DGAP124interchromosomal translocationSCV000320774Malenssv13659832, nssv13659829, nssv13659828
nssv13659832DGAP124interchromosomal translocationSCV000320774Malenssv13659831, nssv13659829, nssv13659828

No genotype data were submitted for this variant

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