A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499



Internal ID15549754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37340522..37350872hg38UCSC Ensembl
Outerchr1:37806123..37816473hg19UCSC Ensembl
Outerchr1:37578710..37589060hg18UCSC Ensembl
Outerchr1:37475216..37485566hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385852
hg195852
hg185852
hg175852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4120
SamplesNA12878
Known Genes
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)nsv499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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