A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540167



Internal ID20913459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32866952..40818398hg38UCSC Ensembl
chr2:33092019..41045538hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387951447
hg197953520
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3826n223
Supporting Variantsnssv18260110
Samples
Known GenesARHGEF33, ATL2, CDC42EP3, CDKL4, CEBPZ, CEBPZ-AS1, CRIM1, CYP1B1, CYP1B1-AS1, DHX57, EIF2AK2, FAM98A, FEZ2, GALM, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LINC00486, LOC100271832, LOC100288911, LOC375196, LOC728730, LTBP1, MAP4K3, MORN2, MYADML, NDUFAF7, 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)nsv6540167
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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