A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960452



Internal ID18249017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27733557..27769108hg38UCSC Ensembl
Innerchr17:26060583..26096134hg19UCSC Ensembl
Innerchr17:23084710..23120261hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3835552
hg1935552
hg1835552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2088269, nssv2088266, nssv2088265, nssv2088262, nssv2088268, nssv2088271, nssv2088270, nssv2088267, nssv2088264, nssv2088263
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNOS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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