A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953212



Internal ID17302086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236592858..236595557hg38UCSC Ensembl
Outerchr2:237501501..237504200hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001291
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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