A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1955



Internal ID15541238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2307885..2339677hg38UCSC Ensembl
Outerchr1:2239324..2271116hg19UCSC Ensembl
Outerchr1:2229184..2260976hg18UCSC Ensembl
Outerchr1:2271486..2303278hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388223
hg198223
hg188223
hg178223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742
Supporting Variants
SamplesNA18555
Known GenesMORN1, SKI
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)nssv1955
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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