A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946329



Internal ID18593179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148413318..148437037hg38UCSC Ensembl
Innerchr1:147885471..147909147hg19UCSC Ensembl
Innerchr1:146352095..146375771hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3823720
hg1923677
hg1823677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1794713, nssv1794707, nssv1794714, nssv1794716, nssv1794710, nssv1794708, nssv1794709, nssv1794715, nssv1794712, nssv1794711
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC01138, LOC100130000, NBPF10, NBPF8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946329
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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