A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130316



Internal ID18913758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:23642791..23643104hg38UCSC Ensembl
Outerchr12:23795725..23796038hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv782n106
Supporting Variantsnssv3966239
SamplesKWS2
Known GenesSOX5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130316
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