A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371869



Internal ID22597538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4540124..4540174hg38UCSC Ensembl
chr17:4443419..4443469hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932743
Supporting Variants
Samples
Known GenesMYBBP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371869
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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