A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998131



Internal ID19157668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112135938..112163515hg38UCSC Ensembl
Innerchr1:112678560..112706137hg19UCSC Ensembl
Innerchr1:112480083..112507660hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3827578
hg1927578
hg1827578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv284n100
Supporting Variantsnssv3498688
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)nsv998131
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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