A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041047



Internal ID19130266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47507430..47530647hg38UCSC Ensembl
Innerchr13:48081565..48104782hg19UCSC Ensembl
Innerchr13:46979566..47002783hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3823218
hg1923218
hg1823218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1645n100
Supporting Variantsnssv3523431
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)nsv1041047
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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