A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004056



Internal ID17297008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71962839..71964382hg38UCSC Ensembl
Outerchr12:72356619..72358162hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957418
Supporting Variants
SamplesBILGI_BIOE
Known GenesTPH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004056
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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