A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980014



Internal ID54063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7984041..7986775hg38UCSC Ensembl
chr6:7984274..7987008hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460430
Supporting Variants
Samples
Known GenesBLOC1S5-TXNDC5, PIP5K1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980014
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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