A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4476



Internal ID15549189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:213212386..213245494hg38UCSC Ensembl
Outerchr1:213385729..213418837hg19UCSC Ensembl
Outerchr1:211452352..211485460hg18UCSC Ensembl
Outerchr1:209774124..209807232hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386178
hg196178
hg186178
hg176178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4941
SamplesNA19129
Known GenesRPS6KC1
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)nsv4476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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