A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738830



Internal ID20514801
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 StatusM
Merged Variants
Supporting Variantsnssv16288499
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)nsv4738830
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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