A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483282



Internal ID19070923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169944456..169977295hg38UCSC Ensembl
Innerchr1:169913597..169946436hg19UCSC Ensembl
Innerchr1:168180221..168213060hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3832840
hg1932840
hg1832840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006673
Supporting Variants
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3483282
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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