A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5756



Internal ID15196971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53901766..53946584hg38UCSC Ensembl
Outerchr19:54405020..54449838hg19UCSC Ensembl
Outerchr19:59096832..59141650hg18UCSC Ensembl
Outerchr19:59096832..59141650hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3844819
hg1944819
hg1844819
hg1744819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2541
Supporting Variants
SamplesNA19129
Known GenesCACNG7, PRKCG
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)nssv5756
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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