A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959662



Internal ID19206343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77217283..77218483hg38UCSC Ensembl
Outerchr7:76846600..76847800hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119227
Supporting Variants
SamplesKWS1
Known GenesCCDC146
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959662
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