A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449468



Internal ID22507338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142657215..142795704hg38UCSC Ensembl
chr7:142364712..142494030hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38138490
hg19129319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5912414
Supporting Variants
Samples
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449468
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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