A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1182



Internal ID15197865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23969308..24014338hg38UCSC Ensembl
Outerchr14:24438517..24483547hg19UCSC Ensembl
Outerchr14:23508357..23553387hg18UCSC Ensembl
Outerchr14:23508357..23553387hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3845031
hg1945031
hg1845031
hg1745031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA19240
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)nssv1182
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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