A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389939



Internal ID22447809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61274127..61274261hg38UCSC Ensembl
chr2:61501262..61501396hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880306
Supporting Variants
Samples
Known GenesUSP34
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389939
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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