A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076397



Internal ID18969740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46461164..46463865hg38UCSC Ensembl
chr13:47035299..47038000hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765858
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076397
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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