A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075383



Internal ID19315769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120286659..120324278hg38UCSC Ensembl
chr1:144672599..144710700hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837620
hg1938102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772799
SamplesKWP1
Known GenesLOC100288142, LOC653513, NBPF8, NBPF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075383
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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