A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081



Internal ID15541364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75211314..75239261hg38UCSC Ensembl
Outerchr14:75678017..75705964hg19UCSC Ensembl
Outerchr14:74747770..74775717hg18UCSC Ensembl
Outerchr14:74747770..74775717hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3812081
hg1912081
hg1812081
hg1712081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1356
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)nssv2081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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