A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998382



Internal ID19157918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169930286..169960441hg38UCSC Ensembl
Innerchr1:169899427..169929582hg19UCSC Ensembl
Innerchr1:168166051..168196206hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3830156
hg1930156
hg1830156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv460n100
Supporting Variantsnssv3486807, nssv3489867
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)nsv998382
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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