A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950776



Internal ID16952963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64348618..64358017hg38UCSC Ensembl
Outerchr1:64814301..64823700hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997157
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950776
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