A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499525



Internal ID22557460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88825568..88826993hg38UCSC Ensembl
chr5:88121385..88122810hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843813
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499525
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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