A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18063931



Internal ID20630971
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 StatusS
Merged Variantsnsv6330230
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18063931
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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