A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996749



Internal ID16943015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:94757750..94758949hg38UCSC Ensembl
Outerchr4:95678901..95680100hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950361
Supporting Variants
SamplesBILGI_BIOE
Known GenesBMPR1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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