A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122989



Internal ID21405675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71333881..71333881hg38UCSC Ensembl
chr4:72199598..72199598hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611780
Supporting Variants
SamplesHG00512
Known GenesSLC4A4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122989
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer