A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969256



Internal ID19234543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7556778..7559678hg38UCSC Ensembl
Outerchr8:7414300..7417200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133684
Supporting Variants
SamplesKWS2
Known GenesFAM90A7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969256
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