A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142784



Internal ID18912567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156082409..156084709hg38UCSC Ensembl
Outerchr1:156052200..156054500hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994288
SamplesKWS1
Known GenesLMNA, MIR7851
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142784
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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