A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946242



Internal ID18593092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149076899..149108690hg38UCSC Ensembl
Innerchr1:144588546..144622111hg19UCSC Ensembl
Innerchr1:143299903..143333468hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3831792
hg1933566
hg1833566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1789906, nssv1789910, nssv1789904, nssv1789907, nssv1789911, nssv1789913, nssv1789909, nssv1789908, nssv1789905, nssv1789912
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, NBPF12, NBPF8, NBPF9, PFN1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946242
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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