A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124591



Internal ID19253687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143398728..143527228hg38UCSC Ensembl
Outerchr1:148825700..148954300hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38128501
hg19128601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194n106
Supporting Variantsnssv3976645
SamplesKWS2
Known GenesLOC101929780, LOC645166
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124591
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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