A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052



Internal ID15548723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148535900..148574007hg38UCSC Ensembl
Outerchr3:148253687..148291794hg19UCSC Ensembl
Outerchr3:149736377..149774484hg18UCSC Ensembl
Outerchr3:149736385..149774492hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3838108
hg1938108
hg1838108
hg1738108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2421
SamplesNA18555
Known Genes
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)nsv4052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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