A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997595



Internal ID17290547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2368566..2389065hg38UCSC Ensembl
Outerchr7:2408201..2428700hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3820500
hg1920500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950791
Supporting Variants
SamplesBILGI_BIOE
Known GenesEIF3B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997595
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