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nsv4436723

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:475,838
  • Description:GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 AND Sensorineural hearing impairment

Genome View

Select assembly:
Overlapping variant regions from other studies: 1804 SVs from 88 studies. See in: genome view    
Remapped(Score: Perfect):179,638,653-180,114,490Question Mark
Overlapping variant regions from other studies: 622 SVs from 57 studies. See in: genome view    
Remapped(Score: Pass):420,871-673,059Question Mark
Overlapping variant regions from other studies: 1804 SVs from 88 studies. See in: genome view    
Submitted genomic179,065,654-179,541,490Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv4436723RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5179,638,653179,638,653180,114,490180,114,490
nsv4436723RemappedPassGRCh38.p12PATCHESSecond PassNW_016107298.1Chr5|NW_01
6107298.1
-420,871673,059-
nsv4436723Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5179,065,654179,085,554179,524,010179,541,490

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15755120copy number gainMultipleMultipleHearing Loss, Sensorineural; Sensorineural hearing impairment; Sensorineural hearing lossUncertain significanceClinVarRCV000787295.3, VCV000635776.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15755120RemappedPassNW_016107298.1:g.(
?_420871)_(673059_
?)dup
GRCh38.p12Second PassNW_016107298.1Chr5|NW_01
6107298.1
-420,871673,059-
nssv15755120RemappedPerfectNC_000005.10:g.(17
9638653_179638653)
_(180114490_180114
490)dup
GRCh38.p12First PassNC_000005.10Chr5179,638,653179,638,653180,114,490180,114,490
nssv15755120Submitted genomicNC_000005.9:g.(179
065654_179085554)_
(179524010_1795414
90)dup
GRCh37 (hg19)NC_000005.9Chr5179,065,654179,085,554179,524,010179,541,490

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15755120GRCh37: NC_000005.9:g.(179065654_179085554)_(179524010_179541490)dupcopy number gainunknownHearing Loss, Sensorineural; Sensorineural hearing impairment; Sensorineural hearing lossUncertain significanceClinVarRCV000787295.3, VCV000635776.23

No genotype data were submitted for this variant

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