A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997242



Internal ID17290194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144914153..144924517hg38UCSC Ensembl
Outerchr1:144084601..144095400hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810365
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950869
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997242
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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