A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187156



Internal ID21325985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62730862..62730862hg38UCSC Ensembl
chr2:62957997..62957997hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937983
Supporting Variants
SamplesHG002
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187156
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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