A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330230



Internal ID20863386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74303287..74309372hg38UCSC Ensembl
chr1:74768971..74775056hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386086
hg196086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18063931
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330230
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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