A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961248



Internal ID18596494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54572549..54597403hg38UCSC Ensembl
Innerchr19:55084016..55108868hg19UCSC Ensembl
Innerchr19:59775828..59800680hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824855
hg1924853
hg1824853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2159627, nssv2159631, nssv2159622, nssv2159630, nssv2159626, nssv2159623, nssv2159625, nssv2159629, nssv2159628, nssv2159624
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLILRA1, LILRA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961248
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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