A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1202



Internal ID15545765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20054701..20118888hg38UCSC Ensembl
Outerchr14:20522860..20587047hg19UCSC Ensembl
Outerchr14:19592700..19656887hg18UCSC Ensembl
Outerchr14:19592700..19656887hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3864188
hg1964188
hg1864188
hg1764188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176, nssv2060, nssv6582
SamplesNA12156, NA18555, NA19240
Known GenesOR4K17, OR4L1
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)nsv1202
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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