A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771286



Internal ID19308447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102868109..102868172hg38UCSC Ensembl
chr12:103261887..103261950hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070546
Supporting Variants
SamplesKWP1
Known GenesPAH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771286
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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