A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124600



Internal ID18934732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178841165..178843465hg38UCSC Ensembl
Outerchr1:178810300..178812600hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976654
SamplesKWS2
Known GenesRALGPS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124600
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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