A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075407



Internal ID18976924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230274853..230276154hg38UCSC Ensembl
chr1:230410599..230411900hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762918
SamplesKWP1
Known GenesGALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075407
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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