A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998564



Internal ID17291516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:104904254..104908653hg38UCSC Ensembl
Outerchr7:104544701..104549100hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949923
Supporting Variants
SamplesBILGI_BIOE
Known GenesLHFPL3, LHFPL3-AS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998564
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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