A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958768



Internal ID19205328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60277136..60277188hg38UCSC Ensembl
Outerchr8:61189695..61189747hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128422
Supporting Variants
SamplesKWS1
Known GenesCA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958768
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