A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696231



Internal ID15086197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36472175..36472231hg38UCSC Ensembl
Innerchr18:34052138..34052194hg19UCSC Ensembl
Innerchr18:32306136..32306192hg18UCSC Ensembl
Innerchr18:32306136..32306192hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
hg1757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518778
Supporting Variants
Samples
Known GenesFHOD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696231
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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