A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258496



Internal ID21399879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120340899..120907389hg38UCSC Ensembl
chr1:144519956..148823087hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38566491
hg194303132
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730183
Supporting Variants
SamplesNA19238
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
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258496
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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