A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792585



Internal ID21237923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101129..7101129hg38UCSC Ensembl
chr12:7253725..7253725hg19UCSC 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 Variantsnssv13704724
Samples
Known GenesC1RL
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792585
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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