A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6102709



Internal ID22011942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129931342..131172179hg38UCSC Ensembl
chr2:130688915..131929752hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381240838
hg191240838
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526307
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6102709
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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