A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831121



Internal ID22606056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119407244..119444066hg38UCSC Ensembl
chr2:120164820..120201642hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3836823
hg1936823
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485819
Samples
Known GenesSCTR, TMEM37
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831121
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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