A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947121



Internal ID21367190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176530228..176530324hg38UCSC Ensembl
chr5:175957229..175957325hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15197201
SamplesHG002
Known GenesRNF44
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947121
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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