A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128632



Internal ID18923741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230274854..230276154hg38UCSC Ensembl
Outerchr1:230410600..230411900hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960543
SamplesKWS1
Known GenesGALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128632
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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