A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2159625



Internal ID17831887
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 StatusS
Merged Variantsnsv961248
Supporting Variants
SamplesHGDP00998
Known GenesLILRA1, LILRA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2159625
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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