A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948596



Internal ID21368665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30972260..30972321hg38UCSC Ensembl
chr1:31445107..31445168hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15181907
SamplesHG002
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948596
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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