A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2216



Internal ID15194813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30195865..30240147hg38UCSC Ensembl
Outerchr19:30686772..30731054hg19UCSC Ensembl
Outerchr19:35378612..35422894hg18UCSC Ensembl
Outerchr19:35378612..35422894hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3844283
hg1944283
hg1844283
hg1744283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2458
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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