A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142441



Internal ID19258683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96896864..96896964hg38UCSC Ensembl
Outerchr5:96232568..96232668hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962116, nssv3993943
SamplesKWS2, KWS1
Known GenesERAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142441
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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