A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575442



Internal ID16362851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46771072..46772268hg38UCSC Ensembl
Innerchr17:44848438..44849634hg19UCSC Ensembl
Innerchr17:42203606..42204797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381197
hg191197
hg181192
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5669n54
Supporting Variantsnssv873018, nssv873012, nssv873019, nssv873014, nssv873013, nssv873015, nssv873016, nssv873017, nssv873020
Samples
Known GenesWNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575442
Frequency
Sample Size17421
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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