A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2227



Internal ID15546790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22900840..22927879hg38UCSC Ensembl
Outerchr18:20480803..20507842hg19UCSC Ensembl
Outerchr18:18734801..18761840hg18UCSC Ensembl
Outerchr18:18734801..18761840hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3812382
hg1912382
hg1812382
hg1712382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6749
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)nsv2227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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