A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4443



Internal ID15192484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98806761..98835494hg38UCSC Ensembl
Outerchr2:99423224..99451957hg19UCSC Ensembl
Outerchr2:98789656..98818389hg18UCSC Ensembl
Outerchr2:98881742..98910475hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388018
hg198018
hg188018
hg178018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2842
Supporting Variants
SamplesNA12878
Known GenesKIAA1211L
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)nssv4443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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