A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119472



Internal ID19265567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43798091..43798200hg38UCSC Ensembl
Outerchr19:44302243..44302352hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959915
SamplesKWS1
Known GenesLYPD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119472
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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