A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1348



Internal ID15545911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:72992487..73009644hg38UCSC Ensembl
Outerchr14:73459195..73476352hg19UCSC Ensembl
Outerchr14:72528948..72546105hg18UCSC Ensembl
Outerchr14:72528948..72546105hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3817158
hg1917158
hg1817158
hg1717158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9215
SamplesNA12156
Known GenesZFYVE1
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)nsv1348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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