A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997444



Internal ID16943710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43487563..43513862hg38UCSC Ensembl
Outerchr6:43455301..43481600hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3826300
hg1926300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950173
Supporting Variants
SamplesBILGI_BIOE
Known GenesLRRC73, TJAP1, YIPF3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997444
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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