A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257146



Internal ID21400590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109941156..110433231hg38UCSC Ensembl
chr2:110698733..111190808hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38492076
hg19492076
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730141
Supporting Variants
SamplesNA19240
Known GenesLIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257146
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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