A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2593960



Internal ID17394733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148542179..148543453hg38UCSC Ensembl
Innerchr1:148267466..148268766hg19UCSC Ensembl
Innerchr1:146634090..146635390hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381275
hg191301
hg181301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946891
Supporting Variants
SamplesHGDP00456
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2593960
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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