A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961225



Internal ID18249785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44008414..44009168hg38UCSC Ensembl
Innerchr19:44512566..44513320hg19UCSC Ensembl
Innerchr19:49204406..49205160hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38755
hg19755
hg18755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2152391, nssv2152394, nssv2152396, nssv2152389, nssv2152390, nssv2152393, nssv2152395, nssv2152397, nssv2152388, nssv2152392
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF230
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961225
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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