A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997155



Internal ID17290107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61679829..61688328hg38UCSC Ensembl
Outerchr1:62145501..62154000hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950774
Supporting Variants
SamplesBILGI_BIOE
Known GenesTM2D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997155
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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