A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700326



Internal ID15090292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1241696..1245179hg38UCSC Ensembl
Innerchr12:1350862..1354345hg19UCSC Ensembl
Innerchr12:1221123..1224606hg18UCSC Ensembl
Innerchr12:1221123..1224606hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383484
hg193484
hg183484
hg173484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519502
Supporting Variants
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700326
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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