A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451046



Internal ID22508919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50722721..50724520hg38UCSC Ensembl
chr12:51116504..51118303hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867479
Supporting Variants
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451046
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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