A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070152



Internal ID18977117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131827754..131828855hg38UCSC Ensembl
chr12:132312299..132313400hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771667
SamplesKWP1
Known GenesMMP17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070152
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer