A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771904



Internal ID18961525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79611264..79612465hg38UCSC Ensembl
chr8:80523499..80524700hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075149
Supporting Variants
SamplesKWP1
Known GenesSTMN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771904
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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