A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257579



Internal ID21399056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110069823..110276356hg38UCSC Ensembl
chr2:110827400..111033933hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38206534
hg19206534
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730141
Supporting Variants
SamplesHG00731
Known GenesLINC00116, LOC100507334, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257579
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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