A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4676



Internal ID15549409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222020910..222055103hg38UCSC Ensembl
Outerchr1:222194252..222228445hg19UCSC Ensembl
Outerchr1:220260875..220295068hg18UCSC Ensembl
Outerchr1:218582647..218616840hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385244
hg195244
hg185244
hg175244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8131
SamplesNA12156
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)nsv4676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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