A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960486



Internal ID18595737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41226509..41238963hg38UCSC Ensembl
Innerchr17:39382761..39395215hg19UCSC Ensembl
Innerchr17:36636287..36648741hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812455
hg1912455
hg1812455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2095568, nssv2095567, nssv2095571, nssv2095564, nssv2095569, nssv2095572, nssv2095565, nssv2095566, nssv2095573, nssv2095570
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960486
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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