A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962339



Internal ID18597583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49533864..49546126hg38UCSC Ensembl
Innerchr17:47611226..47623488hg19UCSC Ensembl
Innerchr17:44966225..44978487hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3812263
hg1912263
hg1812263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102392, nssv2102395, nssv2102388, nssv2102391, nssv2102389, nssv2102397, nssv2102396, nssv2102393, nssv2102390, nssv2102394
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288866
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962339
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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