A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996647



Internal ID16942913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5887074..5894573hg38UCSC Ensembl
Outerchr4:5888801..5896300hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949775
Supporting Variants
SamplesBILGI_BIOE
Known GenesCRMP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996647
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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