A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126424



Internal ID18909116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29805979..29806579hg38UCSC Ensembl
Outerchr16:29817300..29817900hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984671
SamplesKWS1
Known GenesMAZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126424
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