A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6536334



Internal ID20909683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130132612..131206291hg38UCSC Ensembl
chr2:130890185..131963864hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381073680
hg191073680
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4105n223
Supporting Variantsnssv18255226
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEI, POTEJ, PTPN18, SMPD4, TISP43, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6536334
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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