A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954692



Internal ID17303565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144804398..144813092hg38UCSC Ensembl
Outerchr2:91751068..91759802hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg388695
hg198735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002978
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954692
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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