A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690817



Internal ID15427469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78397746..78417941hg38UCSC Ensembl
Innerchr18:76157746..76177941hg19UCSC Ensembl
Innerchr18:74258734..74278929hg18UCSC Ensembl
Innerchr18:74258734..74278929hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3820196
hg1920196
hg1820196
hg1720196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517617
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690817
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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