A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997289



Internal ID18810139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169930286..169991408hg38UCSC Ensembl
Innerchr1:169899427..169960549hg19UCSC Ensembl
Innerchr1:168166051..168227173hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3861123
hg1961123
hg1861123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462n100
Supporting Variantsnssv3494345, nssv3499237, nssv3497574, nssv3494499
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)nsv997289
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer