A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078303



Internal ID18973553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19348666..24537466hg38UCSC Ensembl
chr13:19922806..25111604hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg385188801
hg195188799
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770881
SamplesKWP1
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
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078303
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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