A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2240



Internal ID15194837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55745802..55764412hg38UCSC Ensembl
Outerchr19:56257168..56275778hg19UCSC Ensembl
Outerchr19:60948980..60967590hg18UCSC Ensembl
Outerchr19:60948980..60967590hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3810233
hg1910233
hg1810233
hg1710233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2556
Supporting Variants
SamplesNA18555
Known GenesRFPL4A
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)nssv2240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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