A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983742



Internal ID18618935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:59695223..59697944hg38UCSC Ensembl
Innerchr13:60269357..60272078hg19UCSC Ensembl
Innerchr13:59167358..59170079hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg382722
hg192722
hg182722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765131
SamplesHGDP00998
Known GenesDIAPH3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983742
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer