A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009789



Internal ID18752320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169948309..169991408hg38UCSC Ensembl
Innerchr1:169917450..169960549hg19UCSC Ensembl
Innerchr1:168184074..168227173hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3843100
hg1943100
hg1843100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464n100
Supporting Variantsnssv3485522, nssv3492543, nssv3482822
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)nsv1009789
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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