A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10199



Internal ID15195913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55748240..55764460hg38UCSC Ensembl
Outerchr19:56259606..56275826hg19UCSC Ensembl
Outerchr19:60951418..60967638hg18UCSC Ensembl
Outerchr19:60951418..60967638hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823288
hg1923288
hg1823288
hg1723288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2556
Supporting Variants
SamplesNA18956
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)nssv10199
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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