A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047219



Internal ID19136438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:74771647..75032192hg38UCSC Ensembl
Innerchr13:75345784..75606329hg19UCSC Ensembl
Innerchr13:74243785..74504330hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38260546
hg19260546
hg18260546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530507
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)nsv1047219
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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