A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407123



Internal ID22464993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50142503..50623829hg38UCSC Ensembl
chr19:50645760..51127086hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38481327
hg19481327
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970571
Supporting Variants
Samples
Known GenesASPDH, EMC10, FAM71E1, IZUMO2, JOSD2, KCNC3, LRRC4B, MYBPC2, MYH14, NAPSA, NAPSB, NR1H2, POLD1, SNAR-F, SPIB, SYT3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407123
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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