A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5516



Internal ID15197261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39554450..39767521hg38UCSC Ensembl
Outerchr1:40020122..40233193hg19UCSC Ensembl
Outerchr1:39792709..40005780hg18UCSC Ensembl
Outerchr1:39689215..39902286hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38213072
hg19213072
hg18213072
hg17213072
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7177
Supporting Variants
SamplesNA19129
Known GenesBMP8B, HEYL, HPCAL4, NT5C1A, PABPC4, PPIE, PPIEL, SNORA55
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)nssv5516
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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