A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889968



Internal ID167427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120807835..120847950hg38UCSC Ensembl
chr1:145295716..148764063hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3840116
hg193468348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137956
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, NUDT17, PDIA3P1, PDZK1, PDZK1P1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, RBM8A, RNF115, TXNIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001136


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