A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2581427



Internal ID17406983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148562782..148563500hg38UCSC Ensembl
Innerchr1:145312995..145313721hg19UCSC Ensembl
Innerchr1:144024352..144025078hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38719
hg19727
hg18727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946757
Supporting Variants
SamplesHGDP00521
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2581427
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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