A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110665



Internal ID18924582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202245854..202245908hg38UCSC Ensembl
Outerchr1:202214982..202215036hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960320
SamplesKWS1
Known GenesLGR6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110665
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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