A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1785563



Internal ID17869824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121346117..121390485hg38UCSC Ensembl
Innerchr1:121087983..121132346hg19UCSC Ensembl
Innerchr1:120789506..120833869hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3844369
hg1944364
hg1844364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946200
Supporting Variants
SamplesHGDP01284
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1785563
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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