A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077297



Internal ID19325616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148761929..148791400hg38UCSC Ensembl
chr1:145097099..145126600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3829472
hg1929502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766405
SamplesKWP1
Known GenesLOC100288142, NBPF9, SEC22B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077297
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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