A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999571



Internal ID16945837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67608030..67649929hg38UCSC Ensembl
Outerchr11:67375501..67417400hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3841900
hg1941900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951023
Supporting Variants
SamplesBILGI_BIOE
Known GenesACY3, DOC2GP, NDUFV1, NUDT8, TBX10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999571
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