A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960770



Internal ID18249331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1030850..1057112hg38UCSC Ensembl
Innerchr19:1030849..1057111hg19UCSC Ensembl
Innerchr19:981849..1008111hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3826263
hg1926263
hg1826263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128575, nssv2128578, nssv2128573, nssv2128571, nssv2128576, nssv2128577, nssv2128572, nssv2128579, nssv2128574, nssv2128580
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABCA7, CNN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960770
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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