A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464764



Internal ID22522652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50806226..50814412hg38UCSC Ensembl
chr12:51200009..51208195hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388187
hg198187
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848865
Supporting Variants
Samples
Known GenesATF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464764
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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