A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138677



Internal ID18924987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19218200..19218260hg38UCSC Ensembl
Outerchr19:19329009..19329069hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991262
SamplesKWS2
Known GenesNCAN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138677
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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