A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387215



Internal ID22445085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13469401..22726308hg38UCSC Ensembl
chr16:13563258..22737629hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg389256908
hg199174372
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967951
Supporting Variants
Samples
Known GenesABCC1, ABCC6, ABCC6P1, ABCC6P2, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ANKS4B, ARL6IP1, BFAR, C16orf45, C16orf52, C16orf62, CCP110, CDR2, CLEC19A, COQ7, CRYM, CRYM-AS1, DCUN1D3, DNAH3, EEF2K, ERCC4, ERI2, FOPNL, GDE1, GP2, GPR139, GPRC5B, IGSF6, IQCK, ITPRIPL2, KIAA0430, KNOP1, LOC100190986, LOC100271836, LOC100288162, LOC653786, LOC81691, LYRM1, METTL9, MIR193B, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR484, MIR548AA2, MIR548D2, MIR6506, MIR6511A-2, MIR6511B-1, MIR6770-2, MKL2, MPV17L, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NPIPA8, NPIPB3, NPIPB5, NTAN1, OTOA, PARN, PDILT, PDXDC1, PDZD9, PKD1P1, PLA2G10, POLR3E, RPS15A, RRN3, RRN3P1, RRN3P3, SLC7A5P2, SMG1, SMG1P1, SNX29P1, SYT17, THUMPD1, TMC5, TMC7, TMEM159, UMOD, UQCRC2, VWA3A, XYLT1, ZP2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387215
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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