A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075373



Internal ID19323686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121368138..121401640hg38UCSC Ensembl
chr1:121109999..121143500hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3833503
hg1933502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763246
SamplesKWP1
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075373
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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