A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069209



Internal ID18977496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203499871..203500472hg38UCSC Ensembl
chr1:203468999..203469600hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767893
SamplesKWP1
Known GenesOPTC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069209
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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