A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994465



Internal ID63749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36930781..36935532hg38UCSC Ensembl
chr7:36970386..36975137hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481214
Supporting Variants
Samples
Known GenesELMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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