A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369395



Internal ID22595064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64043892..64044676hg38UCSC Ensembl
chr12:64437672..64438456hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929358
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369395
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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