A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960149



Internal ID19211703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116718746..116726246hg38UCSC Ensembl
Outerchr7:116358800..116366300hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110498
Supporting Variants
SamplesKWS1
Known GenesMET
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960149
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