A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695668



Internal ID15085634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10606890..10608025hg38UCSC Ensembl
Innerchr12:10759489..10760624hg19UCSC Ensembl
Innerchr12:10650756..10651891hg18UCSC Ensembl
Innerchr12:10650756..10651891hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
hg171136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516351
Supporting Variants
Samples
Known GenesMAGOHB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695668
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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