A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6584



Internal ID15190594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23936684..24006855hg38UCSC Ensembl
Outerchr14:24405893..24476064hg19UCSC Ensembl
Outerchr14:23475733..23545904hg18UCSC Ensembl
Outerchr14:23475733..23545904hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3870172
hg1970172
hg1870172
hg1770172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA12156
Known GenesDHRS4, DHRS4-AS1, 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)nssv6584
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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