A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974678



Internal ID19233822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151435192..151435255hg38UCSC Ensembl
Outerchr3:151152980..151153043hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136776
Supporting Variants
SamplesKWS2
Known GenesMED12L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974678
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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