A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967243



Internal ID18892615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47693743..47695443hg38UCSC Ensembl
Outerchr19:48197000..48198700hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112746
Supporting Variants
SamplesKWS2
Known GenesGLTSCR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967243
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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