A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3950946



Internal ID21371016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13046134..13046238hg38UCSC Ensembl
chr12:13199068..13199172hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15181932
SamplesHG002
Known GenesKIAA1467
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3950946
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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