A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398471



Internal ID22456341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179663236..179665848hg38UCSC Ensembl
chr2:180527963..180530575hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382613
hg192613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895082
Supporting Variants
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398471
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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