A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954645



Internal ID21374714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12913644..12913644hg38UCSC Ensembl
chr17:12816961..12816961hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184856
SamplesHG002
Known GenesARHGAP44
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954645
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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