A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv427



Internal ID15544840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166742929..166790184hg38UCSC Ensembl
Outerchr4:167664080..167711335hg19UCSC Ensembl
Outerchr4:167900655..167947910hg18UCSC Ensembl
Outerchr4:168038810..168086065hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3847256
hg1947256
hg1847256
hg1747256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4593
Supporting Variants
SamplesNA19240
Known GenesSPOCK3
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)nssv427
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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