A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2759632



Internal ID17487994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34760525..34782365hg38UCSC Ensembl
Innerchr1:35226126..35247966hg19UCSC Ensembl
Innerchr1:34998713..35020553hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3821841
hg1921841
hg1821841
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947426
Supporting Variants
SamplesHGDP00998
Known GenesGJB3, GJB4
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2759632
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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