A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16288499



Internal ID20497717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96068807..97624627hg38UCSC Ensembl
chr2:96734555..98241090hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381555821
hg191506536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4738830
Supporting Variants
Samples
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16288499
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer