A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17097847



Internal ID21500301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44263721..44263721hg38UCSC Ensembl
chr17:42341089..42341089hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654471
Supporting Variants
SamplesNA19239
Known GenesSLC4A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17097847
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