A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071006



Internal ID18977216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6765833..6767734hg38UCSC Ensembl
chr12:6874999..6876900hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763907
SamplesKWP1
Known GenesPTMS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071006
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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