A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142078



Internal ID18903696
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 StatusM
Merged Variants
Supporting Variantsnssv3987971, nssv3979180
SamplesKWS1, KWS2
Known GenesLGR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142078
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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