A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889959



Internal ID167420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120579835..120924200hg38UCSC Ensembl
chr1:144953330..148823087hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38344366
hg193869758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138586
Supporting Variants
Samples
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, PDE4DIP, PDIA3P1, PDZK1, PDZK1P1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, RBM8A, RNF115, SEC22B, TXNIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889959
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.210395


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