A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18246641



Internal ID20813681
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 StatusS
Merged Variantsnsv6596024
Supporting Variants
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)nssv18246641
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00108


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