A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115549



Internal ID19266989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40684895..40689695hg38UCSC Ensembl
Outerchr19:41190800..41195600hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1782n106
Supporting Variantsnssv3977359
SamplesKWS2
Known GenesNUMBL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115549
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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