A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456248



Internal ID22514125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68628628..68639446hg38UCSC Ensembl
chr12:69022408..69033226hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810819
hg1910819
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855565
Supporting Variants
Samples
Known GenesRAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456248
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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