A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951414



Internal ID17300288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121366640..121396040hg38UCSC Ensembl
Outerchr1:121108501..121137900hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3829401
hg1929400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997214
SamplesBILGI_BIOE
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951414
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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