A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139509



Internal ID18923022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:170279259..170283759hg38UCSC Ensembl
Outerchr1:170248400..170252900hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977097
SamplesKWS2
Known GenesLINC01142
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139509
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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