A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2679344



Internal ID17882841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10476992..10481807hg38UCSC Ensembl
Innerchr21:11030650..11035465hg19UCSC Ensembl
Innerchr21:10052521..10057336hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg384816
hg194816
hg184816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965987
Supporting Variants
SamplesHGDP01307
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2679344
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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