A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523815



Internal ID20897176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44276620..45370613hg38UCSC Ensembl
chr19:44780773..45873871hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381093994
hg191093099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198839
Samples
Known GenesAPOC1, APOC1P1, APOC2, APOC4, APOC4-APOC2, APOE, BCAM, BCL3, BLOC1S3, CBLC, CEACAM16, CEACAM19, CEACAM20, CEACAM22P, CKM, CLASRP, CLPTM1, ERCC2, EXOC3L2, GEMIN7, IGSF23, KLC3, MARK4, MIR4531, MIR8085, NKPD1, PPP1R37, PVR, PVRL2, RELB, TOMM40, TRAPPC6A, ZNF112, ZNF180, ZNF229, ZNF235, ZNF285, ZNF296
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523815
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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