A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548072



Internal ID20921268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32866995..42468982hg38UCSC Ensembl
chr2:33092062..42696122hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg389601988
hg199604061
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3826n223
Supporting Variantsnssv18260118
Samples
Known GenesARHGEF33, ATL2, C2orf91, CDC42EP3, CDKL4, CEBPZ, CEBPZ-AS1, COX7A2L, CRIM1, CYP1B1, CYP1B1-AS1, DHX57, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, KCNG3, LINC00486, LOC100271832, LOC100288911, LOC375196, LOC388942, LOC728730, LTBP1, MAP4K3, MORN2, MYADML, NDUFAF7, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, RMDN2-AS1, SLC8A1, SLC8A1-AS1, SOS1, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, VIT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548072
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer