A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683000



Internal ID15072966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10606890..10611446hg38UCSC Ensembl
Innerchr12:10759489..10764045hg19UCSC Ensembl
Innerchr12:10650756..10655312hg18UCSC Ensembl
Innerchr12:10650756..10655312hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384557
hg194557
hg184557
hg174557
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)nssv683000
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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