A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962276



Internal ID18597520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18568609..18572849hg38UCSC Ensembl
Innerchr17:18471923..18476163hg19UCSC Ensembl
Innerchr17:18412648..18416888hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384241
hg194241
hg184241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2082182, nssv2082175, nssv2082179, nssv2082178, nssv2082181, nssv2082176, nssv2082177, nssv2082183, nssv2082180, nssv2082174
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962276
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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