A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482728



Internal ID22540634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227155049..227158148hg38UCSC Ensembl
chr2:228019765..228022864hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832524
Supporting Variants
Samples
Known GenesCOL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482728
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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