A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391731



Internal ID22449601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237879581..237879674hg38UCSC Ensembl
chr2:238788223..238788316hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968901
Supporting Variants
Samples
Known GenesRAMP1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391731
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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