A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7248



Internal ID15205552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:18616812..19624027hg38UCSC Ensembl
Outerchr14:19393289..20092313hg19UCSC Ensembl
Outerchr14:18463289..19162026hg18UCSC Ensembl
Outerchr14:18463289..19162026hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381007216
hg19699025
hg18698738
hg17698738
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10007, nssv6581, nssv5489, nssv9502, nssv2059
SamplesNA18507, NA18956, NA19129, NA12156, NA18555
Known GenesBMS1P17, BMS1P18, LOC642426, POTEG, POTEM
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)nsv7248
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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