A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231



Internal ID15194828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44750006..44794554hg38UCSC Ensembl
Outerchr19:45253263..45297811hg19UCSC Ensembl
Outerchr19:49945103..49989651hg18UCSC Ensembl
Outerchr19:49945103..49989651hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3844549
hg1944549
hg1844549
hg1744549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2506
Supporting Variants
SamplesNA18555
Known GenesBCL3, CBLC, MIR8085
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)nssv2231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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