A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185280



Internal ID21324087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76556976..76556976hg38UCSC Ensembl
chr2:76784102..76784102hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937182
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185280
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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