A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471631



Internal ID21129184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21442165..21539561hg38UCSC Ensembl
chr12:21595099..21692495hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3897397
hg1997397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177408
Samples
Known GenesC12orf39, GOLT1B, GYS2, PYROXD1, RECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471631
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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