A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516921



Internal ID15444214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62663603..62769297hg38UCSC Ensembl
Innerchr17:60740964..60846658hg19UCSC Ensembl
Innerchr17:58094696..58200390hg18UCSC Ensembl
Innerchr17:58094696..58200390hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38105695
hg19105695
hg18105695
hg17105695
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663321, nssv705808, nssv701074, nssv676233, nssv697792, nssv679222, nssv699915, nssv705122, nssv654996
Samples
Known GenesMARCH10, MIR548W, MRC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516921
Frequency
Sample Size2026
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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