A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17135179



Internal ID21404468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75487824..75487824hg38UCSC Ensembl
chr4:76413034..76413034hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612081
Supporting Variants
SamplesHG00512
Known GenesRCHY1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17135179
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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