A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012520



Internal ID18755053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169930286..170000303hg38UCSC Ensembl
Innerchr1:169899427..169969444hg19UCSC Ensembl
Innerchr1:168166051..168236068hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3870018
hg1970018
hg1870018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462n100
Supporting Variantsnssv3496400
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)nsv1012520
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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