A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114363



Internal ID19283191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:21562838..21562891hg38UCSC Ensembl
Outerchr3:21604330..21604383hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957338, nssv3973104
SamplesKWS2, KWS1
Known GenesZNF385D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114363
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