A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702890



Internal ID15092856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36636714..36637115hg38UCSC Ensembl
Innerchr5:36636816..36637217hg19UCSC Ensembl
Innerchr5:36672573..36672974hg18UCSC Ensembl
Innerchr5:36672573..36672974hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38402
hg19402
hg18402
hg17402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526573
Supporting Variants
Samples
Known GenesSLC1A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702890
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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