A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000598



Internal ID18840047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28147412..30831723hg38UCSC Ensembl
Outerchr15:28392558..31123926hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg382684312
hg192731369
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148560
Supporting Variants
SamplesKWB1
Known GenesAPBA2, ARHGAP11B, CHRFAM7A, DKFZP434L187, FAM189A1, GOLGA6L7P, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8T, HERC2, HERC2P10, HERC2P9, LOC100288637, LOC100289656, LOC101059918, LOC646278, MIR4509-1, MIR4509-2, MIR4509-3, NDNL2, TJP1, ULK4P1, ULK4P2, ULK4P3, WHAMMP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000598
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer