A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1350



Internal ID15199227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73518573..73569132hg38UCSC Ensembl
Outerchr14:73985277..74035836hg19UCSC Ensembl
Outerchr14:73055030..73105589hg18UCSC Ensembl
Outerchr14:73055030..73105589hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3850560
hg1950560
hg1850560
hg1750560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9507, nssv4123, nssv10024, nssv2080, nssv1210
SamplesNA18507, NA18956, NA12878, NA19240, NA18555
Known GenesACOT1, ACOT2, HEATR4
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)nsv1350
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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