A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463426



Internal ID22521312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14923837..14942408hg38UCSC Ensembl
chr12:15076771..15095342hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3818572
hg1918572
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851514
Supporting Variants
Samples
Known GenesARHGDIB, ERP27
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463426
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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