A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700948



Internal ID15090914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56799184..56799749hg38UCSC Ensembl
Innerchr18:54466415..54466980hg19UCSC Ensembl
Innerchr18:52617413..52617978hg18UCSC Ensembl
Innerchr18:52617413..52617978hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38566
hg19566
hg18566
hg17566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517361
Supporting Variants
Samples
Known GenesWDR7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700948
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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