A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946757



Internal ID18246921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148562782..148563500hg38UCSC Ensembl
Innerchr1:145312995..145313721hg19UCSC Ensembl
Innerchr1:144024352..144025078hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38719
hg19727
hg18727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2581433, nssv2581430, nssv2581434, nssv2581429, nssv2581428, nssv2581435, nssv2581426, nssv2581431, nssv2581432, nssv2581427
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946757
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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