A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000107



Internal ID17293059
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 StatusS
Merged Variantsnsv952649
Supporting Variants
SamplesBILGI_BIOE
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000107
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer