A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191581



Internal ID22342269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120286872..120949994hg38UCSC Ensembl
Outerchr1:144502183..148823087hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38663123
hg194320905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256314
SamplesHG00512
Known GenesACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GNRHR2, GPR89A, GPR89B, GPR89C, HFE2, ITGA10, LINC00624, LINC01138, LIX1L, LOC100288142, LOC101929780, LOC653513, LOC728875, LOC728989, MIR5087, MIR6077-1, MIR6077-2, MIR6736, NBPF10, NBPF11, NBPF12, NBPF13P, NBPF14, NBPF15, NBPF16, NBPF24, NBPF8, NBPF9, NOTCH2NL, NUDT17, PDE4DIP, PDIA3P1, PDZK1, PDZK1P1, PEX11B, PFN1P2, PIAS3, POLR3C, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, RBM8A, RNF115, SEC22B, TXNIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191581
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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