A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750527



Internal ID21386797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238532360..238549359hg38UCSC Ensembl
chr2:239441001..239458000hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3817000
hg1917000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433708
Supporting Variants
SamplesMDQ025
Known GenesLINC01107
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750527
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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