A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2464



Internal ID15547027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33804310..33836501hg38UCSC Ensembl
Outerchr19:34295215..34327406hg19UCSC Ensembl
Outerchr19:38987055..39019246hg18UCSC Ensembl
Outerchr19:38987055..39019246hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg387838
hg197838
hg187838
hg177838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2218
SamplesNA18555
Known GenesKCTD15
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)nsv2464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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