A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945292



Internal ID18592143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217849408..217851291hg38UCSC Ensembl
Innerchr1:218022750..218024633hg19UCSC Ensembl
Innerchr1:216089373..216091256hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381884
hg191884
hg181884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816930, nssv1816926, nssv1816935, nssv1816928, nssv1816934, nssv1816931, nssv1816927, nssv1816933, nssv1816932, nssv1816929
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPATA17
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945292
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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