A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6536888



Internal ID20910232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129115769..130999356hg38UCSC Ensembl
chr2:129873342..131756929hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381883588
hg191883588
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256824
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAR2P1, FAR2P2, GPR148, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6536888
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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