A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979823



Internal ID18268338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42784321..42785321hg38UCSC Ensembl
Innerchr3:42825813..42826813hg19UCSC Ensembl
Innerchr3:42800817..42801817hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2278273, nssv2278267, nssv2278266, nssv2278272, nssv2278268, nssv2278274, nssv2278270, nssv2278269, nssv2278275, nssv2278271
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIGD1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979823
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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