A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550819



Internal ID15991542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49607466..49627218hg38UCSC Ensembl
Innerchr10:50815512..50835264hg19UCSC Ensembl
Innerchr10:50485518..50505270hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3819753
hg1919753
hg1819753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747659
Samples
Known GenesCHAT, SLC18A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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