A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409370



Internal ID22467240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85362448..85362448hg38UCSC Ensembl
chr2:85589571..85589571hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958515
Supporting Variants
Samples
Known GenesELMOD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409370
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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