A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930420



Internal ID22705687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1774384..1774519hg38UCSC Ensembl
chr17:1677678..1677813hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388925
Samples
Known GenesSERPINF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930420
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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