A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142724



Internal ID19274980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70249104..70250668hg38UCSC Ensembl
Outerchr12:70642884..70644448hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994215
SamplesKWS1
Known GenesCNOT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142724
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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