A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999857



Internal ID16946123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47486744..47500943hg38UCSC Ensembl
Outerchr19:47990001..48004200hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3814200
hg1914200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953591
Supporting Variants
SamplesBILGI_BIOE
Known GenesNAPA, NAPA-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999857
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