A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999734



Internal ID16946000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55743117..55746416hg38UCSC Ensembl
Outerchr12:56136901..56140200hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952185
Supporting Variants
SamplesBILGI_BIOE
Known GenesGDF11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999734
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