A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075145



Internal ID19318749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72536864..72537665hg38UCSC Ensembl
chr8:73449099..73449900hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768861
SamplesKWP1
Known GenesKCNB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075145
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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