A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997552



Internal ID19157088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247903833..247930870hg38UCSC Ensembl
Innerchr1:248067135..248094172hg19UCSC Ensembl
Innerchr1:246133758..246160795hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827038
hg1927038
hg1827038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484194
Samples
Known GenesOR2T8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997552
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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