A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077196



Internal ID19318919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134656753..134657754hg38UCSC Ensembl
chr9:137548599..137549600hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767193
SamplesKWP1
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077196
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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