A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945286



Internal ID18592137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214870485..214873075hg38UCSC Ensembl
Innerchr1:215043828..215046418hg19UCSC Ensembl
Innerchr1:213110451..213113041hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382591
hg192591
hg182591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816728, nssv1816731, nssv1816723, nssv1816724, nssv1816729, nssv1816726, nssv1816725, nssv1816722, nssv1816730, nssv1816727
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945286
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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