A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675178



Internal ID15065144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50066874..50217873hg38UCSC Ensembl
Innerchr3:50104307..50255305hg19UCSC Ensembl
Innerchr3:50079311..50230309hg18UCSC Ensembl
Innerchr3:50079311..50230309hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38151000
hg19150999
hg18150999
hg17150999
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515986
Supporting Variants
Samples
Known GenesGNAT1, RBM5, RBM5-AS1, RBM6, SEMA3F, SLC38A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675178
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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