A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075658



Internal ID18973377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78031083..78032384hg38UCSC Ensembl
chr9:80645999..80647300hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769161
SamplesKWP1
Known GenesGNAQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075658
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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