A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139198



Internal ID19248574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196565200..196565263hg38UCSC Ensembl
Outerchr3:196292071..196292134hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957438, nssv3974376
SamplesKWS2, KWS1
Known GenesWDR53
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139198
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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