A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2580308



Internal ID17774650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145309032..145309689hg38UCSC Ensembl
Innerchr1:144207618..144208277hg19UCSC Ensembl
Innerchr1:142918975..142919634hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38658
hg19660
hg18660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946718
Supporting Variants
SamplesHGDP00542
Known GenesLOC100288142
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)nssv2580308
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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