A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2400



Internal ID15200277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7481597..7512937hg38UCSC Ensembl
Outerchr19:7546483..7577823hg19UCSC Ensembl
Outerchr19:7452483..7483823hg18UCSC Ensembl
Outerchr19:7452483..7483823hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388689
hg198689
hg188689
hg178689
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205
SamplesNA18555
Known GenesC19orf45, PEX11G
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)nsv2400
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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