A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv921



Internal ID15552942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55177849..55211274hg38UCSC Ensembl
Outerchr1:55643522..55676947hg19UCSC Ensembl
Outerchr1:55416110..55449535hg18UCSC Ensembl
Outerchr1:55355543..55388968hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385840
hg195840
hg185840
hg175840
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5572
SamplesNA19129
Known GenesUSP24
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)nsv921
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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