A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17500442



Internal ID22558379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95085406..95096003hg38UCSC Ensembl
chr5:94421110..94431707hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3810598
hg1910598
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843904
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17500442
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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