A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6112176



Internal ID22021410
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 StatusM
Merged Variants
Supporting Variantsnssv17539082
Samples
Known GenesGTF2H2, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6112176
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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