A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463524



Internal ID22521410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64104756..64106855hg38UCSC Ensembl
chr12:64498536..64500635hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855947
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463524
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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