A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730141



Internal ID21400952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109778360..110602326hg38UCSC Ensembl
chr2:110535937..111359903hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38823967
hg19823967
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258218, nssv16256213, nssv16258862, nssv16258116, nssv16256979, nssv16258867, nssv16257024, nssv16257212, nssv16256463, nssv16256220, nssv16257245, nssv16257579, nssv16255878, nssv16256399, nssv16258585, nssv16257863, nssv16257355, nssv16257329, nssv16256312, nssv16258564, nssv16257374, nssv16257946, nssv16256875, nssv16257357, nssv16257998, nssv16257146
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730141
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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