A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978441



Internal ID18266960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57972559..57974821hg38UCSC Ensembl
Innerchr17:56049920..56052182hg19UCSC Ensembl
Innerchr17:53404919..53407181hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382263
hg192263
hg182263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102505, nssv2102503, nssv2102506, nssv2102508, nssv2102509, nssv2102502, nssv2102500, nssv2102501, nssv2102507, nssv2102504
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesVEZF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978441
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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