A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10010



Internal ID15196101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23932535..24006275hg38UCSC Ensembl
Outerchr14:24401744..24475484hg19UCSC Ensembl
Outerchr14:23471584..23545324hg18UCSC Ensembl
Outerchr14:23471584..23545324hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3873741
hg1973741
hg1873741
hg1773741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1217
Supporting Variants
SamplesNA18956
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)nssv10010
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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