A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10916



Internal ID15192818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24000459..24035503hg38UCSC Ensembl
Outerchr14:24469668..24504712hg19UCSC Ensembl
Outerchr14:23539508..23574552hg18UCSC Ensembl
Outerchr14:23539508..23574552hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3835045
hg1935045
hg1835045
hg1735045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA15510
Known GenesDHRS4L1, DHRS4L2
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)nssv10916
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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