A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969246



Internal ID19231064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152811915..152812415hg38UCSC Ensembl
Outerchr7:152509000..152509500hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133676
Supporting Variants
SamplesKWS2
Known GenesACTR3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969246
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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