A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539485



Internal ID20912780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32866964..42766565hg38UCSC Ensembl
chr2:33092031..42993705hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg389899602
hg199901675
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3826n223
Supporting Variantsnssv18260112
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, MTA3, MYADML, NDUFAF7, OXER1, 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)nsv6539485
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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