A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135699



Internal ID19255642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875486..17875592hg38UCSC Ensembl
Outerchr8:17732995..17733101hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3787n106
Supporting Variantsnssv3973421, nssv3989281
SamplesKWS2, KWS1
Known GenesFGL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135699
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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