A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2485



Internal ID15540641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151321547..151353226hg38UCSC Ensembl
Outerchr4:152242699..152274378hg19UCSC Ensembl
Outerchr4:152462149..152493828hg18UCSC Ensembl
Outerchr4:152600304..152631983hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg388352
hg198352
hg188352
hg178352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4550
Supporting Variants
SamplesNA18555
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)nssv2485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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