A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948733



Internal ID21368802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146182205..146182437hg38UCSC Ensembl
chr1:145255756..145255988hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15177347
SamplesHG002
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948733
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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