A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3301



Internal ID15538029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166740551..166786004hg38UCSC Ensembl
Outerchr4:167661702..167707155hg19UCSC Ensembl
Outerchr4:167898277..167943730hg18UCSC Ensembl
Outerchr4:168036432..168081885hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3845454
hg1945454
hg1845454
hg1745454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4593
Supporting Variants
SamplesNA12878
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)nssv3301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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