A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3493213



Internal ID18734168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169948309..170011810hg38UCSC Ensembl
Innerchr1:169917450..169980951hg19UCSC Ensembl
Innerchr1:168184074..168247575hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3863502
hg1963502
hg1863502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010370
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)nssv3493213
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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