A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075364



Internal ID18975970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9258040..9260741hg38UCSC Ensembl
chr1:9318099..9320800hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770936
SamplesKWP1
Known GenesH6PD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075364
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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