A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993998



Internal ID19237945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128478736..128485494hg38UCSC Ensembl
Outerchr7:128118790..128125548hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg386759
hg196759
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142501
Supporting Variants
SamplesKWS2
Known GenesMETTL2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993998
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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