A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv89



Internal ID15036876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23935989..24006004hg38UCSC Ensembl
Outerchr14:24405198..24475213hg19UCSC Ensembl
Outerchr14:23475038..23545053hg18UCSC Ensembl
Outerchr14:23475038..23545053hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3870016
hg1970016
hg1870016
hg1770016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv89
Supporting Variants
SamplesNA15510
Known GenesDHRS4, DHRS4-AS1, DHRS4L2
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv89
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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