A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730153



Internal ID21400964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71546046..71548050hg38UCSC Ensembl
chr12:71939826..71941830hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256670, nssv16257692, nssv16257102, nssv16257867, nssv16258653, nssv16258078
SamplesNA19239, NA19240
Known GenesLGR5
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730153
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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