A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981346



Internal ID18875496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8640443..8641043hg38UCSC Ensembl
Outerchr16:8734300..8734900hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144754
Supporting Variants
SamplesKWS1
Known GenesMETTL22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981346
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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