A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996660



Internal ID17289612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8849675..8921074hg38UCSC Ensembl
Outerchr4:8851401..8922800hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3871400
hg1971400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949788
Supporting Variants
SamplesBILGI_BIOE
Known GenesHMX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996660
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