A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144858



Internal ID19283936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4121502..4122602hg38UCSC Ensembl
Outerchr19:4121500..4122600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1694n106
Supporting Variantsnssv3981457
SamplesKWS1
Known GenesMAP2K2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144858
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