A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113



Internal ID15547690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202419480..202457034hg38UCSC Ensembl
Outerchr2:203284203..203321757hg19UCSC Ensembl
Outerchr2:202992448..203030002hg18UCSC Ensembl
Outerchr2:203109709..203147263hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3837555
hg1937555
hg1837555
hg1737555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9585
SamplesNA18507
Known GenesBMPR2
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)nsv3113
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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