A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2581520



Internal ID17462771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148561484..148562782hg38UCSC Ensembl
Innerchr1:145313721..145314999hg19UCSC Ensembl
Innerchr1:144025078..144026356hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381299
hg191279
hg181279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946758
Supporting Variants
SamplesHGDP00778
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)nssv2581520
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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