A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131226



Internal ID18904057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:9898738..9898791hg38UCSC Ensembl
Outerchr16:9992595..9992648hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971011
SamplesKWS1
Known GenesGRIN2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131226
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer