A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4593



Internal ID15549318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166735723..166790184hg38UCSC Ensembl
Outerchr4:167656874..167711335hg19UCSC Ensembl
Outerchr4:167893449..167947910hg18UCSC Ensembl
Outerchr4:168031604..168086065hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3854462
hg1954462
hg1854462
hg1754462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9879, nssv7130, nssv2492, nssv427, nssv4794, nssv3301
SamplesNA18507, NA12156, NA12878, NA18555, NA19240, NA19129
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)nsv4593
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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