A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv392



Internal ID15545051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:74694366..74731016hg38UCSC Ensembl
Outerchr4:75619576..75656226hg19UCSC Ensembl
Outerchr4:75838600..75875250hg18UCSC Ensembl
Outerchr4:75976755..76013405hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3836651
hg1936651
hg1836651
hg1736651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390
Supporting Variants
SamplesNA19240
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)nssv392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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