A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4952



Internal ID15549713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:108988445..109033652hg38UCSC Ensembl
Outerchr5:108324146..108369353hg19UCSC Ensembl
Outerchr5:108352045..108397252hg18UCSC Ensembl
Outerchr5:108352045..108397252hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3845208
hg1945208
hg1845208
hg1745208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8132
SamplesNA12156
Known GenesFER
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)nsv4952
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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