A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614519



Internal ID21562824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134885284..134885284hg38UCSC Ensembl
chr2:135642854..135642854hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108717
SamplesHG00731
Known GenesACMSD, CCNT2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614519
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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