A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889962



Internal ID167423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120717399..120890417hg38UCSC Ensembl
chr1:145202613..148806686hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38173019
hg193604074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138400
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, 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)nssv16889962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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