A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1760



Internal ID15546323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20481439..20547438hg38UCSC Ensembl
Outerchr16:20492761..20558760hg19UCSC Ensembl
Outerchr16:20400262..20466261hg18UCSC Ensembl
Outerchr16:20400262..20466261hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3866000
hg1966000
hg1866000
hg1766000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1300
SamplesNA19240
Known GenesACSM2A, ACSM2B
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)nsv1760
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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