A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147301



Internal ID346483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95162216..95162471hg38UCSC Ensembl
chr1:95627772..95628027hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906707
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147301
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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