A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5978



Internal ID15543388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:104824573..104854950hg38UCSC Ensembl
Outerchr3:104543417..104573794hg19UCSC Ensembl
Outerchr3:106026107..106056484hg18UCSC Ensembl
Outerchr3:106026107..106056484hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg388900
hg198900
hg188900
hg178900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929
Supporting Variants
SamplesNA19129
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)nssv5978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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