A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287



Internal ID15548981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:208103993..208136977hg38UCSC Ensembl
Outerchr1:208277338..208310322hg19UCSC Ensembl
Outerchr1:206343961..206376945hg18UCSC Ensembl
Outerchr1:204665733..204698717hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388000
hg198000
hg188000
hg178000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv475
SamplesNA19240
Known GenesPLXNA2
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)nsv4287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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