A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695321



Internal ID15085287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:151516..190376hg38UCSC Ensembl
Innerchr12:260682..299542hg19UCSC Ensembl
Innerchr12:130943..169803hg18UCSC Ensembl
Innerchr12:130943..169803hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3838861
hg1938861
hg1838861
hg1738861
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517911
Supporting Variants
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695321
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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