A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931



Internal ID15204104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:122304083..122348540hg38UCSC Ensembl
Outerchr7:121944137..121988594hg19UCSC Ensembl
Outerchr7:121731373..121775830hg18UCSC Ensembl
Outerchr7:121538088..121582545hg17UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3844458
hg1944458
hg1844458
hg1744458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1683
SamplesNA18555
Known GenesCADPS2, FEZF1, FEZF1-AS1
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)nsv5931
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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