A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492812



Internal ID18733767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169934721..169981200hg38UCSC Ensembl
Innerchr1:169903862..169950341hg19UCSC Ensembl
Innerchr1:168170486..168216965hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3846480
hg1946480
hg1846480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012222
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)nssv3492812
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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