A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003052



Internal ID17296004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:487137..495236hg38UCSC Ensembl
Outerchr1:324101..332200hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953187
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003052
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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