A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6535590



Internal ID20908951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48991693..50757224hg38UCSC Ensembl
chr22:49387505..51195652hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381765532
hg191808148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205687
Samples
Known GenesACR, ADM2, ALG12, ARSA, BRD1, C22orf34, CHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, LOC90834, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR6821, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, RPL23AP82, SBF1, SCO2, SELO, SHANK3, SYCE3, TRABD, TUBGCP6, TYMP, ZBED4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6535590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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