A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417359



Internal ID22475229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157055719..157056825hg38UCSC Ensembl
chr5:156482730..156483836hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895824
Supporting Variants
Samples
Known GenesHAVCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417359
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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