A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981587



Internal ID18616784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137512701..137516194hg38UCSC Ensembl
Innerchr7:137197447..137200940hg19UCSC Ensembl
Innerchr7:136847987..136851480hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383494
hg193494
hg183494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2479241, nssv2479243, nssv2479245, nssv2479242, nssv2479248, nssv2479247, nssv2479249, nssv2479244, nssv2479250, nssv2479246
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDGKI
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981587
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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