A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984272



Internal ID18860756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94954060..94954159hg38UCSC Ensembl
Outerchr5:94289764..94289863hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126064
Supporting Variants
SamplesKWS1
Known GenesMCTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984272
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