A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003192



Internal ID20570232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70648446..70654220hg38UCSC Ensembl
chr12:71042226..71048000hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385775
hg195775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465650
Supporting Variants
Samples
Known GenesPTPRR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003192
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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