A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2580741



Internal ID17873493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149550533..149551380hg38UCSC Ensembl
Innerchr1:144219994..144220840hg19UCSC Ensembl
Innerchr1:142931351..142932197hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38848
hg19847
hg18847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946731
Supporting Variants
SamplesHGDP01284
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)nssv2580741
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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