A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994018



Internal ID63462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30968602..30968640hg38UCSC Ensembl
chr7:31008217..31008255hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543631
Supporting Variants
Samples
Known GenesGHRHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.035327


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