A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962323



Internal ID18597567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41396830..41397782hg38UCSC Ensembl
Innerchr17:39553082..39554034hg19UCSC Ensembl
Innerchr17:36806608..36807560hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2096582, nssv2096576, nssv2096580, nssv2096575, nssv2096573, nssv2096577, nssv2096579, nssv2096574, nssv2096581, nssv2096578
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT31
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962323
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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