A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997096



Internal ID17290048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24193811..24197210hg38UCSC Ensembl
Outerchr1:24520301..24523700hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950291
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997096
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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