A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946841



Internal ID18247005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148235004..148237136hg38UCSC Ensembl
Innerchr1:147707276..147709408hg19UCSC Ensembl
Innerchr1:146173900..146176032hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382133
hg192133
hg182133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2592444, nssv2592440, nssv2592436, nssv2592438, nssv2592442, nssv2592441, nssv2592445, nssv2592437, nssv2592439, nssv2592443
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNBPF10, NBPF8
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946841
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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