A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957269



Internal ID16959456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1774870..1775013hg38UCSC Ensembl
Outerchr12:1884036..1884179hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004163
SamplesBILGI_BIOE
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957269
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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