A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492535



Internal ID18733490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248617194hg38UCSC Ensembl
Innerchr1:248749182..248780495hg19UCSC Ensembl
Innerchr1:246815805..246847118hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3831314
hg1931314
hg1831314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005629
Supporting Variants
Samples
Known GenesOR2T10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3492535
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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