A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952649



Internal ID17301523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206379946..206409840hg38UCSC Ensembl
Outerchr1:206553301..206583200hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3829895
hg1929900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000107
SamplesBILGI_BIOE
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952649
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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