A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702751



Internal ID15439403
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526448
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702751
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer