A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019272



Internal ID18761806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392318..31489856hg38UCSC Ensembl
Innerchr6:31360095..31457633hg19UCSC Ensembl
Innerchr6:31468074..31565612hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897539
hg1997539
hg1897539
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5943n100
Supporting Variantsnssv3655846, nssv3655842, nssv3655841, nssv3655844, nssv3655845, nssv3655850, nssv3655849, nssv3655848, nssv3655847, nssv3655843
Samples
Known GenesHCG26, HCP5, MICA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019272
Frequency
Sample Size29084
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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