A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134747



Internal ID18905898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6138621..6138677hg38UCSC Ensembl
Outerchr19:6138632..6138688hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972209, nssv3955028
SamplesKWS2, KWS1
Known GenesACSBG2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134747
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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