A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987971



Internal ID18877590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202205406..202205459hg38UCSC Ensembl
Outerchr1:202174534..202174587hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142078
Supporting Variants
SamplesKWS1
Known GenesLGR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987971
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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