A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6507708



Internal ID20881002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7393833..7396795hg38UCSC Ensembl
chr17:7297152..7300114hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038391
Samples
Known GenesPLSCR3, TMEM256-PLSCR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6507708
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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