A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705663



Internal ID15095629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19387160..19389229hg38UCSC Ensembl
Innerchr12:19540094..19542163hg19UCSC Ensembl
Innerchr12:19431361..19433430hg18UCSC Ensembl
Innerchr12:19431361..19433430hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382070
hg192070
hg182070
hg172070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516362
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705663
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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