A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550740



Internal ID20923880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130052690..131284722hg38UCSC Ensembl
chr2:130810263..132042295hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381232033
hg191232033
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4105n223
Supporting Variantsnssv18255222
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, 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)nsv6550740
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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