A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048225



Internal ID19137444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68429305..68626390hg38UCSC Ensembl
Innerchr13:69003437..69200522hg19UCSC Ensembl
Innerchr13:67901438..68098523hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38197086
hg19197086
hg18197086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1704n100
Supporting Variantsnssv3527950
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)nsv1048225
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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