A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695292



Internal ID15431944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57369737..57375348hg38UCSC Ensembl
Innerchr12:57763520..57769131hg19UCSC Ensembl
Innerchr12:56049787..56055398hg18UCSC Ensembl
Innerchr12:56049787..56055398hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385612
hg195612
hg185612
hg175612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516655
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695292
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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