A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077623



Internal ID19323404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43911514..43911612hg38UCSC Ensembl
Outerchr1:44377186..44377284hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771208
SamplesKWP1
Known GenesST3GAL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077623
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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