A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316978



Internal ID20850060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30669086..30779524hg38UCSC Ensembl
chr1:31141933..31252371hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38110439
hg19110439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203571
Samples
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316978
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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