A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5042



Internal ID15549812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143697303..143727699hg38UCSC Ensembl
Outerchr5:143076868..143107264hg19UCSC Ensembl
Outerchr5:143057061..143087457hg18UCSC Ensembl
Outerchr5:143057061..143087457hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830397
hg1930397
hg1830397
hg1730397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8161
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)nsv5042
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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