A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15179768



Internal ID21318564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69964323..69964736hg38UCSC Ensembl
chr3:70013474..70013887hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934593
Supporting Variants
SamplesHG002
Known GenesMITF
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15179768
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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