A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764860



Internal ID19304871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7798719..7905639hg38UCSC Ensembl
chr12:7951315..8058235hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106921
hg19106921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070090
Supporting Variants
SamplesKWP1
Known GenesSLC2A14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764860
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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