A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700316



Internal ID15090282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44233216..44286028hg38UCSC Ensembl
Innerchr6:44200953..44253765hg19UCSC Ensembl
Innerchr6:44308931..44361743hg18UCSC Ensembl
Innerchr6:44308931..44361743hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3852813
hg1952813
hg1852813
hg1752813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524398
Supporting Variants
Samples
Known GenesHSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2, TCTE1, TMEM151B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700316
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