A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4373



Internal ID15192414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54182614..54241943hg38UCSC Ensembl
Outerchr19:54686496..54745819hg19UCSC Ensembl
Outerchr19:59378308..59437631hg18UCSC Ensembl
Outerchr19:59378308..59437631hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3859330
hg1959324
hg1859324
hg1759324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2546
Supporting Variants
SamplesNA12878
Known GenesLILRA6, LILRB3, 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)nssv4373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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