A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4978



Internal ID15549741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:122237363..122271024hg38UCSC Ensembl
Outerchr5:121573058..121606719hg19UCSC Ensembl
Outerchr5:121600957..121634618hg18UCSC Ensembl
Outerchr5:121600957..121634618hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3833662
hg1933662
hg1833662
hg1733662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv491
SamplesNA19240
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)nsv4978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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