A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763064



Internal ID19307197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206389342..206395141hg38UCSC Ensembl
chr1:206562699..206568500hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385800
hg195802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075403
Supporting Variants
SamplesKWP1
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763064
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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