A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2082



Internal ID15541365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82031588..82042351hg38UCSC Ensembl
Outerchr14:82497932..82508695hg19UCSC Ensembl
Outerchr14:81567685..81578448hg18UCSC Ensembl
Outerchr14:81567685..81578448hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3810764
hg1910764
hg1810764
hg1710764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1377
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)nssv2082
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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