A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000008



Internal ID18841179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:238275..1591638hg38UCSC Ensembl
Outerchr5:238390..1591753hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381353364
hg191353364
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147234
Supporting Variants
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000008
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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