A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946899



Internal ID18247063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148547259..148547900hg38UCSC Ensembl
Innerchr1:148272606..148273277hg19UCSC Ensembl
Innerchr1:146639230..146639901hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38642
hg19672
hg18672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2595726, nssv2594624, nssv2595719, nssv2595725, nssv2594631, nssv2595727, nssv2595720, nssv2595718, nssv2594625, nssv2594633, nssv2594632, nssv2595722, nssv2594630, nssv2594629, nssv2594627, nssv2594626, nssv2594628, nssv2595723, nssv2595721, nssv2595724
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946899
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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