A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946264



Internal ID18246428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145923884..145925955hg38UCSC Ensembl
Innerchr1:145509138..145511209hg19UCSC Ensembl
Innerchr1:144220495..144222566hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382072
hg192072
hg182072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1789729, nssv1789733, nssv1789735, nssv1789732, nssv1789731, nssv1789730, nssv1789734, nssv1789728, nssv1789727, nssv1789726
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGNRHR2, LOC100288142, NBPF10, RBM8A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946264
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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