A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8156



Internal ID15535708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226321597..226355057hg38UCSC Ensembl
Outerchr1:226509298..226542758hg19UCSC Ensembl
Outerchr1:224575921..224609381hg18UCSC Ensembl
Outerchr1:222816033..222849493hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
hg175974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4744
Supporting Variants
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)nssv8156
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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