A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169



Internal ID15201065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218946755..218978274hg38UCSC Ensembl
Outerchr2:219811477..219842996hg19UCSC Ensembl
Outerchr2:219519721..219551240hg18UCSC Ensembl
Outerchr2:219636982..219668501hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3831520
hg1931520
hg1831520
hg1731520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7620
SamplesNA12156
Known GenesCDK5R2, LINC00608
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)nsv3169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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