A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6591119



Internal ID20964190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5860086..7699509hg38UCSC Ensembl
chr17:5763406..7602827hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381839424
hg191839422
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18243033
Samples
Known GenesACADVL, ACAP1, AIPL1, ALOX12, ALOX12P2, ALOX15P1, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, C17orf74, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FAM64A, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, LOC100506713, LOC339166, MED31, MIR195, MIR324, MIR4520A, MIR4520B, MIR497, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PITPNM3, PLSCR3, POLR2A, RNASEK, RNASEK-C17orf49, SAT2, SENP3, SENP3-EIF4A1, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SOX15, SPEM1, TEKT1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, WSCD1, XAF1, YBX2, ZBTB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6591119
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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