A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123775



Internal ID19248570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34984537..34990742hg38UCSC Ensembl
Outerchr13:35558674..35564879hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386206
hg196206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv947n106
Supporting Variantsnssv3973929
SamplesKWS1
Known GenesNBEA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123775
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