A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575439



Internal ID16362848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46771072..46772112hg38UCSC Ensembl
Innerchr17:44848438..44849478hg19UCSC Ensembl
Innerchr17:42203606..42204641hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381041
hg191041
hg181036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5669n54
Supporting Variantsnssv872995, nssv872997, nssv872994, nssv872998, nssv872993, nssv872996
Samples
Known GenesWNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575439
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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