A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999091



Internal ID18846250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19348635..24537463hg38UCSC Ensembl
Outerchr13:19922775..25111601hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg385188829
hg195188827
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151909
Supporting Variants
SamplesKWB1
Known GenesANKRD20A19P, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, CRYL1, FGF9, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, LINC00327, LINC00367, LINC00424, LINC00539, LINC00540, MICU2, MIPEP, MIPEPP3, MIR2276, MIR4499, MPHOSPH8, MRP63, N6AMT2, PARP4, PSPC1, SACS, SACS-AS1, SAP18, SGCG, SKA3, SPATA13, SPATA13-AS1, TNFRSF19, TPTE2, XPO4, ZDHHC20, ZMYM2, ZMYM5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999091
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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