A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002498



Internal ID19091715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190902108..191190620hg38UCSC Ensembl
Innerchr1:190871238..191159750hg19UCSC Ensembl
Innerchr1:189137861..189426373hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38288513
hg19288513
hg18288513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704864
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002498
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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