A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705104



Internal ID15441756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22712491..22717208hg38UCSC Ensembl
Innerchr12:22865425..22870142hg19UCSC Ensembl
Innerchr12:22756692..22761409hg18UCSC Ensembl
Innerchr12:22756692..22761409hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384718
hg194718
hg184718
hg174718
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528499
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705104
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