A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946357



Internal ID18593207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143802177hg38UCSC Ensembl
Innerchr1:149032574..149296733hg19UCSC Ensembl
Innerchr1:147299198..147563357hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38263559
hg19264160
hg18264160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1795812, nssv1795806, nssv1795814, nssv1795808, nssv1795815, nssv1795810, nssv1795813, nssv1795811, nssv1795809, nssv1795807
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, LOC388692, NBPF23
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946357
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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