A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131237



Internal ID18903676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30109360..30109426hg38UCSC Ensembl
Outerchr16:30120681..30120747hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971026
SamplesKWS1
Known GenesGDPD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131237
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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