A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226544



Internal ID20793584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30612963..31127528hg38UCSC Ensembl
chr7:30652579..31167142hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38514566
hg19514564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6616451
Supporting Variants
Samples
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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