A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977359



Internal ID19244248
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 StatusS
Merged Variantsnsv1115549
Supporting Variants
SamplesKWS2
Known GenesNUMBL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977359
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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