A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953348



Internal ID16955535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248637400..248659999hg38UCSC Ensembl
Outerchr1:248800701..248823300hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3822600
hg1922600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001653
SamplesBILGI_BIOE
Known GenesOR2T27, OR2T35
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953348
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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