A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133013



Internal ID18935746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:255182..1573687hg38UCSC Ensembl
Outerchr5:255297..1573802hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381318506
hg191318506
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987810
SamplesKWS1
Known GenesAHRR, BRD9, C5orf55, CEP72, CLPTM1L, EXOC3, LOC100506688, LOC100996325, LOC102467073, LPCAT1, MIR4456, MIR4457, MIR4635, MIR6075, NKD2, PDCD6, PP7080, SDHA, SDHAP3, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133013
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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