A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2509



Internal ID15200386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115657644..115693403hg38UCSC Ensembl
Outerchr1:116200265..116236024hg19UCSC Ensembl
Outerchr1:116001788..116037547hg18UCSC Ensembl
Outerchr1:115912307..115948066hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3835760
hg1935760
hg1835760
hg1735760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4520
SamplesNA12878
Known GenesVANGL1
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)nsv2509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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