A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077310



Internal ID19318530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206309555..206361045hg38UCSC Ensembl
chr1:206482899..206534400hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3851491
hg1951502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766038
SamplesKWP1
Known GenesSRGAP2, SRGAP2B, SRGAP2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077310
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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