A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952213



Internal ID16954400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155227610..155238909hg38UCSC Ensembl
Outerchr1:155197401..155208700hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3811300
hg1911300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997387
SamplesBILGI_BIOE
Known GenesGBA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952213
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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