A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626143



Internal ID15502990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6006090..6006457hg38UCSC Ensembl
Outerchr1:6006039..6010810hg38UCSC Ensembl
Innerchr1:6066150..6066517hg19UCSC Ensembl
Outerchr1:6066099..6070870hg19UCSC Ensembl
Innerchr1:5988737..5989104hg18UCSC Ensembl
Outerchr1:5988686..5993457hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg384772
hg194772
hg184772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511127
Supporting Variants
Samples1
Known GenesKCNAB2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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