A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962269



Internal ID18250827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16759465..16805515hg38UCSC Ensembl
Innerchr17:16662779..16708829hg19UCSC Ensembl
Innerchr17:16603504..16649554hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3846051
hg1946051
hg1846051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2079540, nssv2079539, nssv2079544, nssv2079536, nssv2079542, nssv2079537, nssv2079541, nssv2079543, nssv2079538, nssv2079535
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCDC144A, FAM106CP, USP32P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962269
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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