A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5003



Internal ID8516751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132845164..132889919hg38UCSC Ensembl
Outerchr5:132180856..132225611hg19UCSC Ensembl
Outerchr5:132208755..132253510hg18UCSC Ensembl
Outerchr5:132208755..132253510hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3844756
hg1944756
hg1844756
hg1744756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2543
SamplesNA18555
Known GenesAFF4, GDF9, LEAP2, UQCRQ
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)nsv5003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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