A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500121



Internal ID18741076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145664432..145809393hg38UCSC Ensembl
Innerchr1:145625694..145770627hg19UCSC Ensembl
Innerchr1:144337051..144481984hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38144962
hg19144934
hg18144934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004444
Supporting Variants
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500121
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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