A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688305



Internal ID15078271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21379166..21415117hg38UCSC Ensembl
Innerchr12:21532100..21568051hg19UCSC Ensembl
Innerchr12:21423367..21459318hg18UCSC Ensembl
Innerchr12:21423367..21459318hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3835952
hg1935952
hg1835952
hg1735952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519603
Supporting Variants
Samples
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688305
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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