A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3005121



Internal ID17298073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66735546..66735849hg38UCSC Ensembl
Outerchr1:67201229..67201532hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958658
Supporting Variants
SamplesBILGI_BIOE
Known GenesSGIP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3005121
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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