A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223935



Internal ID22367542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120772604..120842791hg38UCSC Ensembl
Outerchr1:145257761..148758887hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3825782
hg1925782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264760, nssv14264761, nssv14264756, nssv14264759, nssv14264758, nssv14264757
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GNRHR2, GPR89A, GPR89B, GPR89C, HFE2, ITGA10, LINC00624, LINC01138, LIX1L, LOC100288142, LOC101929780, LOC728989, MIR5087, MIR6077-1, MIR6077-2, MIR6736, NBPF10, NBPF11, NBPF12, NBPF13P, NBPF14, NBPF15, NBPF16, NBPF24, NBPF8, NBPF9, NOTCH2NL, NUDT17, PDIA3P1, PDZK1, PDZK1P1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, RBM8A, RNF115, TXNIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223935
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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