A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960039



Internal ID18595292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1363154..1365350hg38UCSC Ensembl
Innerchr17:1266448..1268644hg19UCSC Ensembl
Innerchr17:1213198..1215394hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382197
hg192197
hg182197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2072716, nssv2072717, nssv2072711, nssv2072714, nssv2072713, nssv2072719, nssv2072718, nssv2072720, nssv2072712, nssv2072715
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesYWHAE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960039
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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