A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764330



Internal ID18958451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51906815..51907616hg38UCSC Ensembl
chr12:52300599..52301400hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1069667
Supporting Variants
SamplesKWP1
Known GenesACVRL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764330
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