A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18255221



Internal ID20822261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130018897..131305573hg38UCSC Ensembl
chr2:130776470..132063146hg19UCSC 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 Variantsnsv6548377
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
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18255221
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.0001


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