A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396649



Internal ID22454519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130018896..131305572hg38UCSC Ensembl
chr2:130776469..132063145hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381286677
hg191286677
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968094
Supporting Variants
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, SMPD4, TISP43, TUBA3E
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396649
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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