A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4597



Internal ID15539324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11847475..11882820hg38UCSC Ensembl
Outerchr3:11888949..11924294hg19UCSC Ensembl
Outerchr3:11863949..11899294hg18UCSC Ensembl
Outerchr3:11863949..11899294hg17UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg384402
hg194402
hg184402
hg174402
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3701
Supporting Variants
SamplesNA12878
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)nssv4597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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