A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876678



Internal ID22651639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95981467..97579646hg38UCSC Ensembl
chr2:96647215..98196109hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381598180
hg191548895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407013
Samples
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876678
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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