A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041599



Internal ID19130818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18471488..18722170hg38UCSC Ensembl
Innerchr13:19045628..19296310hg19UCSC Ensembl
Innerchr13:17943628..18194310hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38250683
hg19250683
hg18250683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1599n100
Supporting Variantsnssv3526433, nssv3526434
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)nsv1041599
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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