A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945565



Internal ID21365634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180873533..180873533hg38UCSC Ensembl
chr2:181738260..181738260hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187246
SamplesHG002
Known GenesSCHLAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945565
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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