A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057517



Internal ID19146736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54226329..54249722hg38UCSC Ensembl
Innerchr19:54730202..54753580hg19UCSC Ensembl
Innerchr19:59422014..59445392hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823394
hg1923379
hg1823379
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3659n100
Supporting Variantsnssv3573343, nssv3573349, nssv3573346, nssv3573344, nssv3573348, nssv3573355, nssv3573351, nssv3573356, nssv3573352, nssv3573354, nssv3573347, nssv3573342, nssv3573350, nssv3573353, nssv3573345
Samples
Known GenesLILRA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057517
Frequency
Sample Size11257
Observed Gain9
Observed Loss6
Observed Complex0
Frequencyn/a


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