A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979872



Internal ID18615073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123993451..123999513hg38UCSC Ensembl
Innerchr3:123712298..123718360hg19UCSC Ensembl
Innerchr3:125194988..125201050hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386063
hg196063
hg186063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2292489, nssv2292482, nssv2292488, nssv2292486, nssv2292487, nssv2292490, nssv2292484, nssv2292481, nssv2292485, nssv2292483
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979872
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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