A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950584



Internal ID22725981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30968640..30968640hg38UCSC Ensembl
chr7:31008255..31008255hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448305
Samples
Known GenesGHRHR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950584
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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