A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2585640



Internal ID17469273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148575565..148576221hg38UCSC Ensembl
Innerchr1:144164757..144165475hg19UCSC Ensembl
Innerchr1:142876114..142876832hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38657
hg19719
hg18719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946665
Supporting Variants
SamplesHGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2585640
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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