A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5041



Internal ID15203125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143273624..143318331hg38UCSC Ensembl
Outerchr5:142653189..142697896hg19UCSC Ensembl
Outerchr5:142633382..142678089hg18UCSC Ensembl
Outerchr5:142633382..142678089hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3844708
hg1944708
hg1844708
hg1744708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8160
SamplesNA12156
Known GenesNR3C1
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)nsv5041
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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