A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679972



Internal ID15069938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:34963570..34977717hg38UCSC Ensembl
Innerchr18:32543534..32557681hg19UCSC Ensembl
Innerchr18:30797532..30811679hg18UCSC Ensembl
Innerchr18:30797532..30811679hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3814148
hg1914148
hg1814148
hg1714148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516682
Supporting Variants
Samples
Known GenesMAPRE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679972
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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