A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043768



Internal ID19132987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:79824244..79872960hg38UCSC Ensembl
Innerchr13:80398379..80447095hg19UCSC Ensembl
Innerchr13:79296380..79345096hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3848717
hg1948717
hg1848717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530520
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)nsv1043768
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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