A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596024



Internal ID20969095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50090965..50608546hg38UCSC Ensembl
chr19:50594222..51111803hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38517582
hg19517582
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18246641
Samples
Known GenesASPDH, EMC10, FAM71E1, IZUMO2, JOSD2, KCNC3, LRRC4B, MYBPC2, MYH14, NAPSA, NAPSB, NR1H2, POLD1, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, SNAR-F, SPIB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596024
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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