A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2492



Internal ID15540634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166745703..166784203hg38UCSC Ensembl
Outerchr4:167666854..167705354hg19UCSC Ensembl
Outerchr4:167903429..167941929hg18UCSC Ensembl
Outerchr4:168041584..168080084hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3838501
hg1938501
hg1838501
hg1738501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4593
Supporting Variants
SamplesNA18555
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)nssv2492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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