A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119151



Internal ID19285789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157138606..157139106hg38UCSC Ensembl
Outerchr7:156931300..156931800hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981957
SamplesKWS1
Known GenesUBE3C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119151
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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