A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575444



Internal ID16362853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46771151..46772112hg38UCSC Ensembl
Innerchr17:44848517..44849478hg19UCSC Ensembl
Innerchr17:42203685..42204641hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38962
hg19962
hg18957
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5669n54
Supporting Variantsnssv873023, nssv873025, nssv873024
Samples
Known GenesWNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575444
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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