A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112



Internal ID15547689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202122413..202155216hg38UCSC Ensembl
Outerchr2:202987136..203019939hg19UCSC Ensembl
Outerchr2:202695381..202728184hg18UCSC Ensembl
Outerchr2:202812642..202845445hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388195
hg198195
hg188195
hg178195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1566
SamplesNA19240
Known GenesLOC100652824
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)nsv3112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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