A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374503



Internal ID22600172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52910048..52914656hg38UCSC Ensembl
chr1:53375720..53380328hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384609
hg194609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873218
Supporting Variants
Samples
Known GenesECHDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374503
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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