A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2377



Internal ID15200254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78991267..79025451hg38UCSC Ensembl
Outerchr18:76751267..76785451hg19UCSC Ensembl
Outerchr18:74852255..74886439hg18UCSC Ensembl
Outerchr18:74852255..74886439hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3819332
hg1919332
hg1819332
hg1719332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1428, nssv10170, nssv9331
SamplesNA18956, NA18517, NA19240
Known GenesSALL3
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)nsv2377
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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