A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071599



Internal ID19320410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79512373..79514074hg38UCSC Ensembl
chr2:79739499..79741200hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762354
SamplesKWP1
Known GenesCTNNA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071599
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