A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329554



Internal ID20862706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74264461..75052297hg38UCSC Ensembl
chr1:74730145..75517981hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38787837
hg19787837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204412
Samples
Known GenesC1orf173, CRYZ, FPGT-TNNI3K, TNNI3K, TYW3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329554
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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