A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075521



Internal ID19318666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7556777..7559678hg38UCSC Ensembl
chr8:7414299..7417200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763629
SamplesKWP1
Known GenesFAM90A7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075521
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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