A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001757



Internal ID19090974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118431001..118505558hg38UCSC Ensembl
Innerchr1:118973624..119048181hg19UCSC Ensembl
Innerchr1:118775147..118849704hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3874558
hg1974558
hg1874558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv297n100
Supporting Variantsnssv3501107
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)nsv1001757
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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