A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999381



Internal ID19158917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247730555..247777890hg38UCSC Ensembl
Innerchr1:247893857..247941192hg19UCSC Ensembl
Innerchr1:245960480..246007815hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3847336
hg1947336
hg1847336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500150
Samples
Known GenesOR1C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999381
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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