A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674854



Internal ID15064820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46638573..46811189hg38UCSC Ensembl
Innerchr3:46680063..46852679hg19UCSC Ensembl
Innerchr3:46655067..46827683hg18UCSC Ensembl
Innerchr3:46655067..46827683hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38172617
hg19172617
hg18172617
hg17172617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516623
Supporting Variants
Samples
Known GenesALS2CL, PRSS45, PRSS46, PRSS50, TMIE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674854
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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