A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978352



Internal ID18613557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4223487..4223987hg38UCSC Ensembl
Innerchr17:4126782..4127282hg19UCSC Ensembl
Innerchr17:4073531..4074031hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2074269, nssv2074277, nssv2074276, nssv2074272, nssv2074274, nssv2074271, nssv2074275, nssv2074270, nssv2074273, nssv2074268
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKFY1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978352
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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