A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4063



Internal ID15202049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151408925..151444402hg38UCSC Ensembl
Outerchr3:151126713..151162190hg19UCSC Ensembl
Outerchr3:152609403..152644880hg18UCSC Ensembl
Outerchr3:152609411..152644888hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg385621
hg195621
hg185621
hg175621
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv339, nssv10367, nssv4690, nssv7882
SamplesNA18956, NA19129, NA12156, NA19240
Known GenesIGSF10, MED12L
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)nsv4063
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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