A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952229



Internal ID16954416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165354464..165357263hg38UCSC Ensembl
Outerchr1:165323701..165326500hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998356
SamplesBILGI_BIOE
Known GenesLMX1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952229
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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