A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3043



Internal ID15194246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110117270..110124240hg38UCSC Ensembl
Outerchr1:110659892..110666862hg19UCSC Ensembl
Outerchr1:110461415..110468385hg18UCSC Ensembl
Outerchr1:110371934..110378904hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385434
hg195434
hg185434
hg175434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2343
Supporting Variants
SamplesNA18555
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)nssv3043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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