A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2546



Internal ID15200423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54182614..54270671hg38UCSC Ensembl
Outerchr19:54686496..54774525hg19UCSC Ensembl
Outerchr19:59378308..59466337hg18UCSC Ensembl
Outerchr19:59378308..59466337hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3888058
hg1988030
hg1888030
hg1788030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4373, nssv11003, nssv9341
SamplesNA12878, NA15510, NA18517
Known GenesLILRA6, LILRB3, LILRB5, MBOAT7, RPS9, TSEN34
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2546
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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