A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14095613



Internal ID21282608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181021486..181026185hg38UCSC Ensembl
Innerchr1:180990622..180995321hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110175
Supporting Variants
Samplessample329
Known GenesSTX6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14095613
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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