A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072923



Internal ID19319392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11344273..11345474hg38UCSC Ensembl
chr2:11484399..11485600hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762672
SamplesKWP1
Known GenesROCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072923
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