A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125319



Internal ID18935217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133220914..135537261hg38UCSC Ensembl
Outerchr9:136096301..138429107hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382316348
hg192332807
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983491
SamplesKWS2
Known GenesABO, ADAMTS13, ADAMTSL2, BRD3, C9orf116, C9orf62, C9orf96, CACFD1, COL5A1, DBH, DBH-AS1, FAM163B, FCN1, FCN2, LCN1, LINC00094, LOC101448202, LOC401557, MED22, MIR3689A, MIR3689B, MIR3689C, MIR3689D1, MIR3689D2, MIR3689E, MIR3689F, MIR4669, MRPS2, OLFM1, PPP1R26, PPP1R26-AS1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SLC2A6, SNORD24, SNORD36A, SNORD36B, SNORD36C, SURF1, SURF2, SURF4, SURF6, TMEM8C, VAV2, WDR5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125319
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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