A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946176



Internal ID18593026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119417404..119446454hg38UCSC Ensembl
Innerchr1:119960027..119989077hg19UCSC Ensembl
Innerchr1:119761550..119790600hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3829051
hg1929051
hg1829051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1785996, nssv1785999, nssv1785995, nssv1785992, nssv1785993, nssv1785998, nssv1785991, nssv1785994, nssv1785997, nssv1785990
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD3B2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946176
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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