A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4398



Internal ID15549103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210861240..210905775hg38UCSC Ensembl
Outerchr1:211034582..211079117hg19UCSC Ensembl
Outerchr1:209101205..209145740hg18UCSC Ensembl
Outerchr1:207422977..207467512hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3844536
hg1944536
hg1844536
hg1744536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1686
SamplesNA18555
Known GenesKCNH1
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)nsv4398
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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