A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703506



Internal ID15440158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10211571..10211763hg38UCSC Ensembl
Innerchr12:10364170..10364362hg19UCSC Ensembl
Innerchr12:10255437..10255629hg18UCSC Ensembl
Innerchr12:10255437..10255629hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
hg17193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527123
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703506
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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