A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17539082



Internal ID21863437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70770921..71216017hg38UCSC Ensembl
chr5:70066748..70511844hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38445097
hg19445097
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6112176
Supporting Variants
Samples
Known GenesGTF2H2, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17539082
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer