A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257190



Internal ID21400496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148283307..148302983hg38UCSC Ensembl
chr1:147755414..147775094hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3819677
hg1919681
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730271
Supporting Variants
SamplesNA19239
Known GenesNBPF8
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257190
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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