A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997152



Internal ID16943418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54626428..54630327hg38UCSC Ensembl
Outerchr1:55092101..55096000hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950750
Supporting Variants
SamplesBILGI_BIOE
Known GenesACOT11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997152
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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