A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970072



Internal ID22745007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57948736..57948736hg38UCSC Ensembl
chr12:58342519..58342519hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359711
Samples
Known GenesXRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970072
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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