A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3929012



Internal ID21349083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101128..7101128hg38UCSC Ensembl
chr12:7253724..7253724hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15191853
SamplesHG002
Known GenesC1RL
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3929012
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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