A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136096



Internal ID18928842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358150..26358420hg38UCSC Ensembl
Outerchr12:26511083..26511353hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv785n106
Supporting Variantsnssv3989700
SamplesKWS1
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136096
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