A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765126



Internal ID20540986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108524982..112352916hg38UCSC Ensembl
chr2:109141438..113110493hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383827935
hg193969056
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271529
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, CCDC138, EDAR, FBLN7, LIMS1, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MERTK, MIR4265, MIR4266, MIR4267, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4436B1, MIR4436B2, NPHP1, RANBP2, RGPD5, RGPD6, SEPT10, SH3RF3, SH3RF3-AS1, SOWAHC, TMEM87B, ZC3H6, ZC3H8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765126
Frequency
Sample Size25
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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