A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463896



Internal ID22521782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4754881..4764907hg38UCSC Ensembl
chr12:4864047..4874073hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3810027
hg1910027
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862117
Supporting Variants
Samples
Known GenesGALNT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463896
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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