A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114148



Internal ID19284706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168749621..168749697hg38UCSC Ensembl
Outerchr2:169606131..169606207hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973639, nssv3955591
SamplesKWS2, KWS1
Known GenesCERS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114148
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer