A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139215



Internal ID18907535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950666..9950916hg38UCSC Ensembl
Outerchr4:9952290..9952540hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974395, nssv3956689
SamplesKWS1, KWS2
Known GenesSLC2A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139215
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