A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112187



Internal ID18903972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754862..1755162hg38UCSC Ensembl
Outerchr12:1864028..1864328hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n106
Supporting Variantsnssv3965881
SamplesKWS1
Known GenesADIPOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112187
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