A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526448



Internal ID15453741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14268178..14275184hg38UCSC Ensembl
Innerchr12:14421112..14428118hg19UCSC Ensembl
Innerchr12:14312379..14319385hg18UCSC Ensembl
Innerchr12:14312379..14319385hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg387007
hg197007
hg187007
hg177007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90n21
Supporting Variantsnssv702751
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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