A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120200



Internal ID18927436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156775809..156775885hg38UCSC Ensembl
Outerchr1:156745601..156745677hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960974
SamplesKWS1
Known GenesPRCC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120200
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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