A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705574



Internal ID18657169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247402897..247503209hg38UCSC Ensembl
Innerchr1:247566199..247666511hg19UCSC Ensembl
Innerchr1:245632822..245733134hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38100313
hg19100313
hg18100313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011097
Supporting Variants
Samples
Known GenesNLRP3, OR2B11, OR2W5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3705574
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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