A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4989



Internal ID15549753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:126478645..126523336hg38UCSC Ensembl
Outerchr5:125814337..125859028hg19UCSC Ensembl
Outerchr5:125842236..125886927hg18UCSC Ensembl
Outerchr5:125842236..125886927hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3844692
hg1944692
hg1844692
hg1744692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2541
SamplesNA18555
Known GenesGRAMD3
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)nsv4989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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