A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998713



Internal ID19192111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206384044..206410040hg38UCSC Ensembl
Outerchr1:206557399..206583400hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3825997
hg1926002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149927
Supporting Variants
SamplesKWB1
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998713
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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