A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694601



Internal ID15084567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5524782..5526320hg38UCSC Ensembl
Innerchr18:5524781..5526319hg19UCSC Ensembl
Innerchr18:5514781..5516319hg18UCSC Ensembl
Innerchr18:5514781..5516319hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381539
hg191539
hg181539
hg171539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521827
Supporting Variants
Samples
Known GenesEPB41L3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694601
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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