A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1675



Internal ID15545389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47407401..47411679hg38UCSC Ensembl
Outerchr3:47448891..47453169hg19UCSC Ensembl
Outerchr3:47423895..47428173hg18UCSC Ensembl
Outerchr3:47423895..47428173hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386122
hg196122
hg186122
hg176122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3804
Supporting Variants
SamplesNA19240
Known GenesPTPN23
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)nssv1675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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