A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521970



Internal ID15449263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91716201..91718641hg38UCSC Ensembl
Innerchr12:92109978..92112418hg19UCSC Ensembl
Innerchr12:90634109..90636549hg18UCSC Ensembl
Innerchr12:90612446..90614886hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg382441
hg192441
hg182441
hg172441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694739
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521970
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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