A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957254



Internal ID16959441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:59671984..59672082hg38UCSC Ensembl
Outerchr12:60065765..60065863hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004149
SamplesBILGI_BIOE
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957254
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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