A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957274



Internal ID17306147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22869634..22869767hg38UCSC Ensembl
Outerchr12:23022568..23022701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004168
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957274
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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