A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945996



Internal ID18592846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72274284..72274917hg38UCSC Ensembl
Innerchr1:72739967..72740600hg19UCSC Ensembl
Innerchr1:72512555..72513188hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38634
hg19634
hg18634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772091, nssv1772089, nssv1772093, nssv1772096, nssv1772097, nssv1772094, nssv1772088, nssv1772090, nssv1772095, nssv1772092
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNEGR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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