A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002943



Internal ID19092160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188870631..189155890hg38UCSC Ensembl
Innerchr1:188839762..189125021hg19UCSC Ensembl
Innerchr1:187106385..187391644hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38285260
hg19285260
hg18285260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487932
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)nsv1002943
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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