A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3495672



Internal ID19083313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832642..196923816hg38UCSC Ensembl
Innerchr1:196801772..196892946hg19UCSC Ensembl
Innerchr1:195068395..195159569hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891175
hg1991175
hg1891175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014623
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3495672
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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