A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701271



Internal ID15091237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18701244..18771813hg38UCSC Ensembl
Innerchr11:18722791..18793360hg19UCSC Ensembl
Innerchr11:18679367..18749936hg18UCSC Ensembl
Innerchr11:18679367..18749936hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3870570
hg1970570
hg1870570
hg1770570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525192
Supporting Variants
Samples
Known GenesIGSF22, PTPN5, TMEM86A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701271
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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