A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981669



Internal ID18878563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2748486..2748786hg38UCSC Ensembl
Outerchr5:2748600..2748900hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145050
Supporting Variants
SamplesKWS1
Known GenesIRX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981669
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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