A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6616451



Internal ID20989522
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 StatusM
Merged Variants
Supporting Variantsnssv18226544
Samples
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6616451
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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