A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000251



Internal ID16946517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4689541..4726040hg38UCSC Ensembl
Outerchr1:4749601..4786100hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3836500
hg1936500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953834
Supporting Variants
SamplesBILGI_BIOE
Known GenesAJAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000251
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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