A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996614



Internal ID16942880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:620112..796912hg38UCSC Ensembl
Outerchr4:613901..790700hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38176801
hg19176800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950325
Supporting Variants
SamplesBILGI_BIOE
Known GenesATP5I, CPLX1, LOC100129917, MFSD7, MYL5, PCGF3, PDE6B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996614
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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