A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950735



Internal ID16952922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179288600..179390499hg38UCSC Ensembl
Outerchr5:178715601..178817500hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38101900
hg19101900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997906
SamplesBILGI_BIOE
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950735
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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