A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070519



Internal ID18977694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29420494..29420817hg38UCSC Ensembl
chr12:29573427..29573750hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767546
SamplesKWP1
Known GenesOVCH1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070519
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