A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109682



Internal ID19263397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60292441..60292741hg38UCSC Ensembl
Outerchr8:61205000..61205300hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3832n106
Supporting Variantsnssv3957247
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109682
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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