A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730140



Internal ID21400951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14672976..15381350hg38UCSC Ensembl
chr16:14766833..15475207hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38708375
hg19708375
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257208, nssv16256911, nssv16257503, nssv16256351, nssv16256075, nssv16256508, nssv16257402, nssv16257913, nssv16256039, nssv16256144, nssv16257747, nssv16256746, nssv16257271, nssv16256276, nssv16256535, nssv16255889, nssv16256111, nssv16258736, nssv16256847, nssv16256322, nssv16256677, nssv16257780, nssv16257667, nssv16256265, nssv16257237, nssv16258420, nssv16258390, nssv16258776, nssv16258407, nssv16258254, nssv16258483, nssv16257636, nssv16258010, nssv16258854, nssv16256306, nssv16256430, nssv16258469, nssv16258639, nssv16258543
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, PLA2G10, RRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730140
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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