A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1217



Internal ID15199094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23931356..24043480hg38UCSC Ensembl
Outerchr14:24400565..24512689hg19UCSC Ensembl
Outerchr14:23470405..23582529hg18UCSC Ensembl
Outerchr14:23470405..23582529hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38112125
hg19112125
hg18112125
hg17112125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4103, nssv5490, nssv2065, nssv10011, nssv5492, nssv6585, nssv10915, nssv10010, nssv9299, nssv4100, nssv9503, nssv1183, nssv10012, nssv6584, nssv6586, nssv1182, nssv5493, nssv10916, nssv2064
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, 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)nsv1217
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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