A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407152



Internal ID22465022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237516820..237517015hg38UCSC Ensembl
chr2:238425463..238425658hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893023
Supporting Variants
Samples
Known GenesMLPH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407152
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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