A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680959



Internal ID15070925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:170292..189877hg38UCSC Ensembl
Innerchr12:279458..299043hg19UCSC Ensembl
Innerchr12:149719..169304hg18UCSC Ensembl
Innerchr12:149719..169304hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3819586
hg1919586
hg1819586
hg1719586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515938
Supporting Variants
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680959
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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