A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960485



Internal ID18249050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41079523..41106292hg38UCSC Ensembl
Innerchr17:39235775..39262544hg19UCSC Ensembl
Innerchr17:36489301..36516070hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826770
hg1926770
hg1826770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2093821, nssv2093820, nssv2093822, nssv2093819, nssv2093823, nssv2093818, nssv2093824, nssv2093815, nssv2093816, nssv2093817
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960485
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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