A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv665383



Internal ID15055349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:154673..190549hg38UCSC Ensembl
Innerchr12:263839..299715hg19UCSC Ensembl
Innerchr12:134100..169976hg18UCSC Ensembl
Innerchr12:134100..169976hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835877
hg1935877
hg1835877
hg1735877
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515938
Supporting Variants
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv665383
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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