A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696524



Internal ID15086490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48671944..48685687hg38UCSC Ensembl
Innerchr12:49065727..49079470hg19UCSC Ensembl
Innerchr12:47351994..47365737hg18UCSC Ensembl
Innerchr12:47351994..47365737hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3813744
hg1913744
hg1813744
hg1713744
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519053
Supporting Variants
Samples
Known GenesKANSL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696524
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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