A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580191



Internal ID16367600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54227805..54255708hg38UCSC Ensembl
Innerchr19:54731679..54759571hg19UCSC Ensembl
Innerchr19:59423491..59451383hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3827904
hg1927893
hg1827893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901486, nssv1150186, nssv1150185, nssv901487, nssv901485
Samples1780854264_A, NINDS_73
Known GenesLILRA6, LILRB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580191
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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