A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1375



Internal ID15545938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81650018..81671814hg38UCSC Ensembl
Outerchr14:82116362..82138158hg19UCSC Ensembl
Outerchr14:81186115..81207911hg18UCSC Ensembl
Outerchr14:81186115..81207911hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3821797
hg1921797
hg1821797
hg1721797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9223
SamplesNA12156
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)nsv1375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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