A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18143866



Internal ID20710906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48050801..48053500hg38UCSC Ensembl
chr6:48018537..48021236hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398347
Supporting Variants
Samples
Known GenesPTCHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18143866
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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