A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4665



Internal ID15549397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:221913333..221947119hg38UCSC Ensembl
Outerchr1:222086675..222120461hg19UCSC Ensembl
Outerchr1:220153298..220187084hg18UCSC Ensembl
Outerchr1:218475070..218508856hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385650
hg195650
hg185650
hg175650
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8123
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)nsv4665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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