A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000605



Internal ID19192341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1340346..1340483hg38UCSC Ensembl
Outerchr16:1390347..1390484hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148565
Supporting Variants
SamplesKWB1
Known GenesBAIAP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000605
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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