A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520314



Internal ID15447607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:123151690..123247502hg38UCSC Ensembl
Innerchr7:122791744..122887556hg19UCSC Ensembl
Innerchr7:122578980..122674792hg18UCSC Ensembl
Innerchr7:122385695..122481507hg17UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3895813
hg1995813
hg1895813
hg1795813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692566, nssv662781
Samples
Known GenesSLC13A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520314
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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