A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455978



Internal ID22513855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28914539..28916046hg38UCSC Ensembl
chr1:29241051..29242558hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829828
Supporting Variants
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455978
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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