A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730183



Internal ID21400994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120196658..120907389hg38UCSC Ensembl
chr1:144502183..148823087hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38710732
hg194320905
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257459, nssv16256041, nssv16256590, nssv16257347, nssv16256895, nssv16255848, nssv16256353, nssv16256522, nssv16256744, nssv16258616, nssv16257412, nssv16258692, nssv16257144, nssv16257316, nssv16258719, nssv16257731, nssv16257229, nssv16256303, nssv16256414, nssv16256009, nssv16258591, nssv16258088, nssv16258496, nssv16256667, nssv16258571, nssv16256835, nssv16258373, nssv16257274, nssv16257527, nssv16258488, nssv16256095, nssv16258350, nssv16257785, nssv16257666, nssv16256839, nssv16256807
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv4730183
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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