A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997394



Internal ID17290346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3145067..3150666hg38UCSC Ensembl
Outerchr6:3145301..3150900hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950763
Supporting Variants
SamplesBILGI_BIOE
Known GenesBPHL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997394
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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