A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150539



Internal ID19196830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206309155..206359746hg38UCSC Ensembl
Outerchr1:206482499..206533100hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850592
hg1950602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996015
SamplesKWB1
Known GenesSRGAP2, SRGAP2B, SRGAP2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150539
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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