A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4253



Internal ID15548944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:17240843..17249261hg38UCSC Ensembl
Outerchr4:17242466..17250884hg19UCSC Ensembl
Outerchr4:16851564..16859982hg18UCSC Ensembl
Outerchr4:16918735..16927153hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg388419
hg198419
hg188419
hg178419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7930
SamplesNA12156
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)nsv4253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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