A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976257



Internal ID18264778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:32401379..32404465hg38UCSC Ensembl
Innerchr13:32975516..32978602hg19UCSC Ensembl
Innerchr13:31873516..31876602hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg383087
hg193087
hg183087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764341
SamplesHGDP00998
Known GenesN4BP2L1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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