A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17465502



Internal ID22523391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3731375..3735250hg38UCSC Ensembl
chr12:3840541..3844416hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383876
hg193876
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860313
Supporting Variants
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17465502
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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