A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2603959



Internal ID17846915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223907430..223911318hg38UCSC Ensembl
Innerchr1:224095132..224099020hg19UCSC Ensembl
Innerchr1:222161755..222165643hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383889
hg193889
hg183889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947057
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2603959
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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