A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542883



Internal ID20916134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129979633..131364141hg38UCSC Ensembl
chr2:130737206..132121714hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381384509
hg191384509
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4105n223
Supporting Variantsnssv18255220
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LOC440910, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542883
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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