A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123994



Internal ID18925597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150205236..150205300hg38UCSC Ensembl
Outerchr5:149584799..149584863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3193n106
Supporting Variantsnssv3974175
SamplesKWS2
Known GenesSLC6A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123994
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