A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984261



Internal ID18272763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13922378..13924189hg38UCSC Ensembl
Innerchr16:14016235..14018046hg19UCSC Ensembl
Innerchr16:13923736..13925547hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2043307, nssv2043301, nssv2043300, nssv2043305, nssv2043306, nssv2043298, nssv2043304, nssv2043299, nssv2043303, nssv2043302
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesERCC4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984261
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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