A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183



Internal ID15201081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:223723907..223758906hg38UCSC Ensembl
Outerchr2:224588624..224623623hg19UCSC Ensembl
Outerchr2:224296868..224331867hg18UCSC Ensembl
Outerchr2:224414129..224449128hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385989
hg195989
hg185989
hg175989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1574
SamplesNA19240
Known GenesAP1S3
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)nsv3183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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