A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980668



Internal ID18859679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150150010..150150610hg38UCSC Ensembl
Outerchr1:150122200..150122800hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143465
Supporting Variants
SamplesKWS1
Known GenesPLEKHO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980668
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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