A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954007



Internal ID17302881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243849199..243850798hg38UCSC Ensembl
Outerchr1:244012501..244014100hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001636
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954007
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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