A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771389



Internal ID19315630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127611820..127613021hg38UCSC Ensembl
chr9:130374099..130375300hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075675
Supporting Variants
SamplesKWP1
Known GenesSTXBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771389
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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