A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3843



Internal ID15538570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236713195..236737087hg38UCSC Ensembl
Outerchr1:236876495..236900387hg19UCSC Ensembl
Outerchr1:234943118..234967010hg18UCSC Ensembl
Outerchr1:233202536..233226428hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385357
hg195357
hg185357
hg175357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4988
Supporting Variants
SamplesNA12878
Known GenesACTN2
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)nssv3843
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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