A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700297



Internal ID15090263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:999564..1016309hg38UCSC Ensembl
Innerchr12:1108730..1125475hg19UCSC Ensembl
Innerchr12:978991..995736hg18UCSC Ensembl
Innerchr12:978991..995736hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816746
hg1916746
hg1816746
hg1716746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524382
Supporting Variants
Samples
Known GenesERC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700297
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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